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Platelets 2020 May 14:1-3. Epub 2020 May 14.

Medical Scientist Training Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.

We and others recently described families with germline heterozygote mutations in ETV6 leading to autosomal dominant highly penetrant thrombocytopenia, red cell macrocytosis and predisposition to leukemia.The bone marrow of affected individuals shows erythroid dysplasia and hyperplasia of small, hypolobulated immature megakaryocytes suggesting a differentiation arrest. This discovery led to subsequent studies that confirmed our findings and to additional larger studies that demonstrated a 1% frequency of germline ETV6 mutations among 4405 individuals with acute lymphoblastic leukemia. Read More

Ann Gastroenterol 2020 May-Jun;33(3):272-276. Epub 2020 Apr 13.

Department of Internal Medicine, Armed Forces Medical College, Pune (Manish Manrai, Parvathi V.S., Basant Pathak).

Background: The etiology of anemia in liver disease is diverse and often multifactorial. Anemia is more severe in advanced stages of liver cirrhosis and can be a predictor of the severity of liver disease.

Methods: In this cross-sectional observational study, we included 181 cirrhotic patients with anemia owing to liver cirrhosis and its complications. Read More

J Dent Sci 2020 Mar 24;15(1):34-41. Epub 2019 Dec 24.

Graduate Institute of Clinical Dentistry, School of Dentistry, National Taiwan University, Taipei, Taiwan.

Background/purpose: Our previous study found that 42 of 884 burning mouth syndrome (BMS) patients have vitamin B12 deficiency. This study assessed whether the vitamin B12-deficient BMS (B12D/BMS) patients had significantly higher frequencies of anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody (GPCA) positivity than healthy control subjects and evaluated whether all B12D/BMS patients had pernicious anemia (PA).

Materials And Methods: The blood hemoglobin (Hb) and serum iron, vitamin B12, folic acid, homocysteine, and GPCA levels in 42 B12D/BMS patients and 442 healthy control subjects were measured and compared. Read More

Case Rep Neurol 2020 Jan-Apr;12(1):27-34. Epub 2020 Jan 15.

Division of Neurology, Department of Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Japan.

Subacute combined degeneration of the spinal cord (SCDS) is a neurodegenerative disease characterized by subacute progression in the central and peripheral nervous systems mainly caused by vitamin B₁₂ deficiency. It is known that typical SCDS is frequently accompanied by megaloblastic anemia and increased serum methylmalonic acid (MMA) or homocysteine (Hcy) levels on laboratory findings, and marked abnormalities on spinal cord magnetic resonance imaging (MRI). A 45-year-old woman was admitted to our hospital with a 2-year history of worsening mild weakness, numbness in bilateral lower limbs, and gait disturbance. Read More

Medicine (Baltimore) 2020 Jan;99(4):e18887

Department of Hematology and Oncology.

Introduction: MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, which is responsible for encoding nonmuscle myosin heavy chains IIA (NMMHCIIA). MYH9-RD is clinically characterized by congenital macrothrombocytopenia, granulocyte inclusions variably associated with the risk of developing progressive sensorineural deafness, cataracts and nephropathy.

Patient Concerns: A 5-year-old boy had a history of a mild bleeding tendency and chronic thrombocytopenia, first identified at four months of age. Read More

Case Rep Crit Care 2019 10;2019:1468704. Epub 2019 Dec 10.

Consultant Intensivist, National Hospital of Sri Lanka, Colombo, Sri Lanka.

Cerebral venous sinus thrombosis associated with acute hydrocephalus and periventricular leukoencephalopathy is a challenging combination, in a critically ill with deteriorating neurology. We report a case of a young man with acute onset neuropsychiatric manifestations, admitted to the intensive care unit. He was found to have widespread cerebral venous sinus thrombosis, hyperintensities in basal ganglia, and acute hydrocephalus in magnetic resonance imaging, necessitating cerebrospinal fluid diversion, by way of an external ventricular drain and therapeutic anticoagulation. Read More

Front Neurol 2019 26;10:1262. Epub 2019 Nov 26.

Department of Physiological Sciences, Faculty of Science, Stellenbosch University, Stellenbosch, South Africa.

Migraine is a debilitating primary headache disorder with a poorly understood aetiology. An extensive body of literature supports the theory of migraine as a systemic vascular inflammatory disorder characterised by endothelial dysfunction. It is also well-known that chronic inflammation results in an excessive burden of oxidative stress and therefore cellular dysfunction. Read More

Clin Chem Lab Med 2020 Feb;58(3):424-429

Department of Radiology, University of Missouri, Columbia, MO, USA.

Background Vitamin B12 deficiency is common worldwide and is also linked to several diseases including autoimmune atrophic gastritis (AAG). The presence of anti-parietal cell antibodies (APCA) and/or intrinsic factor blocking antibodies (IFBA) is indicative of AAG that may develop into pernicious anemia. Both conditions are known to be associated with an increased risk of gastric carcinoma. Read More

Proc (Bayl Univ Med Cent) 2019 Oct 30;32(4):589-592. Epub 2019 Jul 30.

Department of Hematology and Oncology, University of Arkansas for Medical SciencesLittle RockArkansas.

Vitamin B12 deficiency can cause extensive hematologic alterations such as pancytopenia, macrocytosis, hypersegmentation of neutrophils, and hypercellular bone marrow with blastic differentiation. These dysplastic changes can sometimes be so profound that they mimic myelodysplastic syndromes or even acute leukemia, leading to extensive workup and aggressive treatment measures. We present a patient who was referred to our tertiary care medical center for treatment of suspected acute myeloid leukemia on the basis of peripheral smear and bone marrow biopsy findings, and induction chemotherapy was considered. Read More

J Formos Med Assoc 2020 Mar 18;119(3):720-727. Epub 2019 Oct 18.

Graduate Institute of Clinical Dentistry, School of Dentistry, National Taiwan University, Taipei, Taiwan; Department of Dentistry, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address:

Background/purpose: Our previous study found that 56 of 1064 atrophic glossitis (AG) patients have vitamin B12 deficiency. This study assessed whether the AG patients with vitamin B12 deficiency (B12D/AG patients) had significantly higher frequencies of anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody (GPCA) positivity than healthy control subjects.

Methods: The blood hemoglobin (Hb) and serum iron, vitamin B12, folic acid, homocysteine, and GPCA levels in 56 B12D/AG patients and 532 healthy control subjects were measured and compared. Read More

PLoS One 2019 10;14(10):e0223000. Epub 2019 Oct 10.

Medical Research Council Lifecourse Epidemiology Unit, University of Southampton, Southampton, United Kingdom.

Background: Vitamin B-12 deficiency is often considered synonymous with pernicious anemia, a rare condition in which severe malabsorption of the vitamin requires high-dose parenteral treatment. In developing countries such as India, inadequate dietary intake of B-12 due to socio-cultural factors leads to widely prevalent asymptomatic low B-12 status. In this scenario, lower doses of oral B-12 may be effective, safer and more affordable. Read More

Neuropsychiatr Dis Treat 2019 12;15:2293-2298. Epub 2019 Aug 12.

National Addiction Center, Institute of Psychiatry, King's College London , London, UK.

Purpose: Few empirical studies have investigated hematological parameters among people with a heroin use disorder. This study explores the prevalence of macrocytosis and associated factors among patients with heroin use disorder who were entering methadone maintenance treatment (MMT) in Taiwan.

Patients And Methods: In this cross-sectional study, hematological parameters were measured and the prevalence of macrocytosis was assessed in a sample of 958 patients with a heroin use disorder entering the MMT program at Tsaotun Psychiatric Center in Taiwan. Read More

Eur J Med Genet 2020 Mar 14;63(3):103740. Epub 2019 Aug 14.

Frank H. Netter School of Medicine, Quinnipiac University, USA; Massachusetts General Hospital, USA; Harvard Medical School, USA. Electronic address:

Objective: To evaluate the occurrence and estimate the frequency of macrocytosis in Williams-Beuren syndrome (WBS).

Study Design: Complete blood count (CBC) data from 179 subjects with WBS aged 1-69 were collected, with common parameters assessed for trends. Z-transformed mean corpuscular volume (MCV) was compared with each laboratory's reference range as well as with control data from the National Health and Nutrition Examination Survey (NHANES) 2013-2014 data archives. Read More

Genet Med 2020 02 16;22(2):317-325. Epub 2019 Aug 16.

Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

Purpose: Current American Academy of Pediatrics guidelines for children with Down syndrome (DS) recommend a complete blood count (CBC) at birth and hemoglobin annually to screen for iron deficiency (ID) and ID anemia (IDA) in low-risk children. We aimed to determine if macrocytosis masks the diagnosis of ID/IDA and to evaluate the utility of biochemical and red blood cell indices for detecting ID/IDA in DS.

Methods: We reviewed data from 856 individuals from five DS specialty clinics. Read More

J Formos Med Assoc 2019 Nov 16;118(11):1515-1521. Epub 2019 Jul 16.

Graduate Institute of Clinical Dentistry, School of Dentistry, National Taiwan University, Taipei, Taiwan; Department of Dentistry, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address:

Background/purpose: Macrocytosis is defined as having the mean corpuscular volume (MCV) ≧ 100 fL. This study evaluated whether 41 atrophic glossitis (AG) patients with macrocytosis had significantly higher frequencies of anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody (GPCA) positivity than 532 healthy control subjects or 1064 AG patients.

Methods: Complete blood count, serum iron, vitamin B12, folic acid, homocysteine, and GPCA levels in 41 AG patients with macrocytosis, 1064 AG patients, and 532 healthy control subjects were measured and compared. Read More

Georgian Med News 2019 May(290):45-48

Tbilisi State Medical University, Department of Children and Adolescents; I. Tsitsishvili New Children Clinic, Tbilisi, Georgia.

Normal red blood cells maturation depends on many different hematological factors, including vitamin (vit.) B12. Megaloblastic anemias are basically caused by vit. Read More

Pediatr Hematol Oncol 2019 Aug 12;36(5):317-326. Epub 2019 Jul 12.

Division of Pediatric Hematology and Oncology, Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan , Detroit , Michigan , USA.

Piezo1, encoded by the gene , is an erythrocytic cellular membrane mechanoactivated cation channel. Mutations have been implicated in erythrocyte volume disorders (EVDs)-especially hereditary xerocytosis (HX)/dehydrated stomatocytosis (DHS). We identified three patients, all with novel mutations, but only one displaying the HX/DHS phenotype. Read More

Esophagus 2020 Apr 8;17(2):149-158. Epub 2019 Jul 8.

Department of Clinical Oncology, Kyoto University Hospital, 54 Kawaharacho, Shogoin, Sakyo-ku, Kyoto, 606-8507, Japan.

Background: Macrocytosis is associated with an increased risk of squamous cell carcinoma (SCC) arising in the esophagus in men. The aim of this study was to evaluate the association between macrocytosis and metachronous SCC of the esophagus after endoscopic resection (ER) of early esophageal SCC in men.

Methods: The study group comprised 278 men with early esophageal SCC after ER. Read More

J Formos Med Assoc 2020 Jan 2;119(1 Pt 2):377-383. Epub 2019 Jul 2.

Graduate Institute of Clinical Dentistry, School of Dentistry, National Taiwan University, Taipei, Taiwan; Department of Dentistry, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address:

Background/purpose: Our previous study found 284 gastric parietal cell antibody (GPCA)-positive atrophic glossitis (AG) patients (so-called GPCAAG patients in this study) in a group of 1064 AG patients. This study evaluated whether high-titer (GPCA titer ≥ 160) GPCAAG patients had greater frequencies of anemia, vitamin B12 deficiency, macrocytosis, and hyperhomocysteinemia than low-titer (GPCA titer < 160) GPCAAG patients.

Methods: Complete blood count, serum iron, vitamin B12, folic acid, homocysteine, and GPCA levels in 117 high-titer GPCAAG patients, 167 low-titer GPCAAG patients, and 532 healthy control subjects were measured and compared. Read More

Ann Thorac Surg 2019 12 11;108(6):1830-1838. Epub 2019 Jun 11.

Department of Anesthesiology and Critical Care Medicine, Johns Hopkins Medicine, Baltimore, Maryland.

Background: Abnormal red cell distribution width (RDW), reflecting heterogeneity of red blood cell (RBC) size, is associated with cardiovascular disease outcomes. However, whether RBC size itself, expressed as mean corpuscular volume (MCV), provides additional prognostic value is unclear. We therefore investigated the relationship between outcomes after cardiac surgery and both RDW and MCV simultaneously. Read More

Cureus 2019 Mar 25;11(3):e4310. Epub 2019 Mar 25.

Oncology, Olive View - University of California Los Angeles Medical Center, Sylmar, USA.

Sunitinib is an oral tyrosine kinase inhibitor (TKI) commonly used in the treatment of renal cell carcinoma (RCC). Among a broad range of toxicities, anemia and macrocytosis are common in patients treated with sunitinib. Correlation between sunitinib-associated macrocytosis and cobalamin deficiency has been reported in small case series and retrospective analyses, although others have not found an association. Read More

Ter Arkh 2019 May;91(4):122-129

I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), Moscow, Russia.

The review discusses thesteps of vitamin B12 metabolism and its role in maintaining of neurological functions. The term "vitamin B12 (cobalamin)" refers to several substances (cobalamins) of a very similar structure. Cobalamin enters the body with animal products. Read More

Int J Pharm Pract 2019 Dec 6;27(6):575-577. Epub 2019 May 6.

Drug Utilisation Research Unit, Department of Pharmacy, Faculty of Health Sciences, Nelson Mandela University, Port Elizabeth, South Africa.

Objectives: Identify the incidence of haematological adverse effects associated with linezolid.

Methods: Medical records of 27 hospitalised patients in South Africa with drug-resistant tuberculosis (DR-TB) and prescribed linezolid therapy were retrospectively reviewed.

Key Findings: Approximately a quarter (n = 7) of patients experienced haematological adverse effects. Read More

J Formos Med Assoc 2019 Aug 17;118(8):1218-1224. Epub 2019 Apr 17.

Department of Dentistry, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan; Graduate Institute of Clinical Dentistry, School of Dentistry, National Taiwan University, Taipei, Taiwan. Electronic address:

Background/purpose: Our previous study found that 304 of 1064 atrophic glossitis (AG) patients have thyroglobulin antibody (TGA) positivity and/or thyroid microsomal antibody (TMA) positivity but without gastric parietal cell antibody positivity (GPCA־TGA/TMAAG patients). This study mainly assessed whether the serum TGA/TMA positivity was significantly associated with anemia, hematinic deficiencies, and hyperhomocysteinemia in GPCA־TGA/TMAAG patients.

Methods: The mean blood hemoglobin (Hb), iron, vitamin B12, folic acid, and homocysteine levels were measured and compared between 304 GPCA־TGA/TMAAG patients and 476 GPCA-negative, TGA-negative, and TMA-negative AG patients (GPCA־TGA־TMA־AG patients) or 532 healthy control subjects. Read More

Blood Res 2019 Mar 21;54(1):38-44. Epub 2019 Mar 21.

Center for Hereditary Blood Diseases, Basrah Heath Directorate, Basrah, Iraq.

Background: Microcytic anemia, the most common form of anemia in children and adolescents, is a heterogeneous group of diseases that is acquired or inherited. We assessed the frequency and causes of microcytosis in children and adolescents with the sickle cell trait (SCT).

Methods: This descriptive study included 95 subjects (49 males and 46 females) with SCT who attended Basra Center for Hereditary Blood Diseases for evaluation. Read More

Nutrients 2019 Mar 31;11(4). Epub 2019 Mar 31.

Departments of Global Health and Population, Nutrition and Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA 02115, USA.

This study examined whether the type of anemia in persons living with HIV/AIDS (PLWHA) changed from the beginning of highly antiretroviral therapy (HAART) and had implications for treatment outcomes and quality of life (QOL). If present, the anemia-type was defined as microcytic, macrocytic or anemia of chronic disease (ACD) at study months 0, 6, 12, and 18. Multinomial logistic regression quantified sociodemographic and HIV-treatment factors associated with incident microcytic anemia or ACD over 18 months. Read More

J Dent Sci 2018 Mar 21;13(1):68-74. Epub 2018 Mar 21.

Graduate Institute of Clinical Dentistry, School of Dentistry, National Taiwan University, Taipei, Taiwan.

Background/purpose: Previous studies showed that approximately 13-15% of male oral submucous fibrosis (OSF) patients are serum gastric parietal cell antibody (GPCA)-positive. This study assessed whether serum GPCA or OSF itself was a significant factor that caused hematinic deficiencies and anemia statuses in GPCA-positive or GPCA-negative OSF patients (GPCA/OSF and GPCA/OSF patients).

Materials And Methods: The frequencies of macrocytosis (mean corpuscular volume or MCV ≧ 100 fL) and blood hemoglobin (Hb), iron, vitamin B12 and folic acid deficiencies were determined and compared between any two of the four groups of 149 male OSF, 23 male GPCA/OSF, and 126 male GPCA/OSF patients and 149 age-matched male healthy control subjects. Read More

Ticks Tick Borne Dis 2019 04 22;10(3):690-693. Epub 2019 Feb 22.

Laboratório de Diagnóstico em Medicina Veterinária, Universidade de Caxias do Sul, R. Francisco Getúlio Vargas, 1130, Petrópolis, Caxias do Sul, RS, 95070560, Brazil. Electronic address:

Rangeliosis, caused by protozoan Rangelia vitalii, is transmitted by the tick Amblyomma aureolatum. The disease is characterized by hemolytic and hemorrhagic disorder and has been described in dogs and other wild canids. The aim of this study was to compare clinicopathological findings and laboratory results of a Rangelia infection in a crab-eating fox (Cerdocyon thous) with those of canine rangeliosis. Read More

J Pediatr Gastroenterol Nutr 2019 07;69(1):88-94

Division of Pediatric Gastroenterology.

Objectives: Thiopurines, commonly used to treat inflammatory bowel disease, cause lymphopenia and red blood cell macrocytosis, requiring therapeutic monitoring. Mean corpuscular volume/white blood cell (MCV/WBC) ratio has been proposed as a surrogate for therapeutic monitoring. Our aim was to investigate MCV/WBC ratio for assessing clinical response to thiopurines among pediatric patients with inflammatory bowel disease. Read More

J Formos Med Assoc 2019 Feb 21;118(2):565-571. Epub 2018 Dec 21.

Graduate Institute of Clinical Dentistry, School of Dentistry, National Taiwan University, Taipei, Taiwan; Department of Dentistry, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address:

Background/purpose: Approximately 27% of atrophic glossitis (AG) patients have the serum gastric parietal cell antibody (GPCA) positivity. This study assessed whether the serum GPCA or AG itself was a significant factor causing anemia, hematinic deficiencies, and hyperhomocysteinemia in GPCA-positive AG (GPCAAG) and GPCA-negative AG (GPCAAG) patients.

Methods: The mean corpuscular volume (MCV) and mean blood hemoglobin (Hb), iron, vitamin B12, folic acid, and homocysteine levels were measured and compared between any two of three groups of 284 GPCAAG, 780 GPCAAG patients, and 532 healthy control subjects. Read More

Top Companion Anim Med 2018 Dec 3;33(4):141-146. Epub 2018 Jun 3.

Companion Animal Clinic, School of Veterinary Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece.

Histograms, which are an integral part of the automated complete blood count, are now available through most of the automatic hematology analyzers used in veterinary clinical practice. Data concerning the size and number of blood cells are graphically presented in histograms, and their variations are also illustrated. Important information that is not apparent from numerical results are sometimes provided by histograms. Read More

J Vet Intern Med 2019 Jan 29;33(1):106-113. Epub 2018 Nov 29.

Clinical Pathology, IDEXX Laboratories, New York, New York.

Background: Megaloblastic, nonregenerative anemia is a well-known consequence of cobalamin or folate deficiencies in humans but is not recognized in hypocobalaminemic or hypofolatemic dogs. Establishment of relationships between hypocobalaminemia or hypofolatemia and hematologic disease would encourage vitamin B testing, and potentially supplementation, in anemic dogs.

Objectives: To determine the prevalence of anemia in hypocobalaminemic or hypofolatemic dogs and to report the prevalence of hypocobalaminemia and hypofolatemia and nonregenerative anemia, macrocytosis, and anisocytosis in anemic dogs. Read More

Am J Hematol 2019 02 27;94(2):E45-E48. Epub 2018 Nov 27.

Department of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

J Clin Invest 2018 12 5;128(12):5489-5504. Epub 2018 Nov 5.

Division of Clinical Immunology, Departments of Medicine and Pediatrics, and.

We report the molecular, cellular, and clinical features of 5 patients from 3 kindreds with biallelic mutations in the autosomal LIG1 gene encoding DNA ligase 1. The patients exhibited hypogammaglobulinemia, lymphopenia, increased proportions of circulating γδT cells, and erythrocyte macrocytosis. Clinical severity ranged from a mild antibody deficiency to a combined immunodeficiency requiring hematopoietic stem cell transplantation. Read More

Br J Haematol 2018 10 23;183(2):276-288. Epub 2018 Oct 23.

Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.

The inherited thrombocytopenias (IT) are a heterogeneous group of diseases resulting from mutations in more than 30 different genes. Among them, ACTN1-related thrombocytopenia (ACTN1-RT; Online Mendelian Inheritance in Man: 615193) is one of the most recently identified forms. It has been described as a mild autosomal dominant macrothrombocytopenia caused by mutations in ACTN1, a gene encoding for one of the two non-muscle isoforms of α-actinin. Read More

Pediatr Dermatol 2018 Nov 11;35(6):796-799. Epub 2018 Oct 11.

Division of Pediatric Neurology, Department of Pediatrics, Dayanand Medical College & Hospital, Ludhiana, Punjab, India.

Background/objectives: Vitamin B deficiency in infants is uncommonly reported from developed countries and generally lacks dermatologic manifestations. On the contrary, infantile vitamin B deficiency is common in India and cutaneous manifestations are a constant feature, although often overshadowed by neurologic and hematological manifestations. The aim of this study was to describe the skin changes of vitamin B deficiency in infants. Read More

Int J Lab Hematol 2019 Feb 5;41(1):109-117. Epub 2018 Oct 5.

Hematology, Hospital Universitario de Salamanca-IBSAL, Salamanca, Spain.

Introduction: Diagnosis of myelodysplastic syndromes (MDSs) when anemia is the only abnormality can be complicated. The aim of our study was to investigate the primary causes of anemia and/or macrocytosis of uncertain etiology.

Methods: We conducted a multicenter, prospective study over 4 months in three hematology laboratories. Read More

J Med Case Rep 2018 Oct 3;12(1):296. Epub 2018 Oct 3.

Divisione di Clinica Medica, Ospedale San Gerardo, Monza, Italy.

Background: Vitamin B deficiency-induced thrombotic microangiopathy, known as pseudothrombotic microangiopathy, is a rare condition which resembles the clinical features of thrombotic thrombocytopenic purpura but requires a markedly different treatment. Most cases of vitamin B deficiency have only mild hematological findings, but in approximately 10% of patients life-threatening conditions have been reported.

Case Presentation: We report a case of a 46-year-old Moroccan man presenting with severe hemolytic anemia, thrombocytopenia, and renal failure in absence of macrocytosis, thus mimicking a genuine thrombotic thrombocytopenic purpura. Read More

J Blood Med 2018 4;9:141-144. Epub 2018 Sep 4.

Internal Medicine Department, Doctor Soliman Fakeeh Hospital, Jeddah, Saudi Arabia,

Vitamin B is essential for proper neurological functioning, and its deficiency may cause a wide range of neuropsychiatric and hematological manifestations. We report a case of a previously healthy 32-year-old female who was admitted to our hospital with sudden onset of bilateral lower limb paraparesis and loss of sensation. The serum level of vitamin B was mildly decreased with high methylmalonic acid and homocysteine levels. Read More

Vnitr Lek Summer 2018;64(5):488-500

This review summarizes the pathophysiology, genetic background and clinical symptoms of anemias belonging to the group of inherited bone marrow failure syndromes with unilineage failure of erythropoiesis. It sums up the current knowledge of three diseases: Diamond-Blackfan anemia, congenital dyserythropoietic anemia and Fanconi anemia whose pathophysiology was elucidated in detail during the last decade, owing to the rapid development of new molecular-genetic techniques, especially next-generation sequencing. Fanconi anemia is included in this overview because of macrocytosis and/or anemia detected in the majority of the patients before they develop bone marrow failure. Read More

Vnitr Lek Summer 2018;64(5):468-475

Anemia, defined as hemoglobin level under lower normal limit, is a symptom of different pathologic conditions and the accurate differential diagnosis is necessary to determine the cause of anemia. The article uses the morphological classification of anemia to distinguish macrocytic, normocytic and microcytic types of anemias and divides anemias with increased amount of peripheral blood reticulocytes as a special group. It describes commonly known clinical units as iron deficiency anemia or anemia of chronic disease, as so as rare clinical units, which are always need to think about in a differential diagnosis of an anemic patient. Read More

J Formos Med Assoc 2018 Dec 4;117(12):1065-1071. Epub 2018 Aug 4.

Department of Dentistry, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan; Graduate Institute of Clinical Dentistry, School of Dentistry, National Taiwan University, Taipei, Taiwan. Electronic address:

Background/purpose: Atrophic glossitis (AG) patients are prone to have anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody (GPCA) positivity. This study evaluated whether 1064 AG patients had significantly higher frequencies of anemia, hematinic deficiencies, hyperhomocysteinemia, and serum GPCA positivity than 532 healthy control subjects.

Methods: The complete blood count, serum iron, vitamin B12, folic acid, homocysteine, and serum GPCA levels in 1064 AG patients and 532 age- and sex-matched healthy control subjects were measured and compared. Read More

J Physiol 2018 09 15;596(18):4341-4360. Epub 2018 Aug 15.

Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK.

Key Points: Folate (folic acid) deficiency and mutations in folate-related genes in humans result in megaloblastic anaemia. Folate metabolism, which requires the enzyme methionine synthase reductase (MTRR), is necessary for DNA synthesis and the transmission of one-carbon methyl groups for cellular methylation. In this study, we show that the hypomorphic Mtrr mutation in mice results in late-onset and sex-specific blood defects, including macrocytic anaemia, extramedullary haematopoiesis and lymphopenia. Read More

Vet Clin Pathol 2018 Sep 27;47(3):400-406. Epub 2018 Jun 27.

Brisbane Veterinary Specialist Centre, Brisbane, Qld, Australia.

A healthy 14-year-old, male neutered, Miniature Poodle was found to have a persistent erythrocyte macrocytosis and reticulocytosis with a normal and stable HCT. The hematologic features of macrocytosis, increased Howell-Jolly bodies, and metarubricytosis, in the absence of anemia or other cytopenias, combined with the cytologic evidence of bone marrow erythroid dysplasia, including megaloblastosis, binuclearity, increased mitotic activity, and nuclear fragmentation, are consistent with previous reports of congenital dyserythropoiesis termed poodle macrocytosis. We speculate that the additional presence of persistent reticulocytosis in the absence of an identifiable stimulus for accelerated erythropoiesis may represent a phenotypic variation of this inherited condition, and the morphologic abnormalities of the dyserythropoiesis are described. Read More

Genet Med 2019 02 6;21(2):353-360. Epub 2018 Jun 6.

Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.

Purpose: Lesch-Nyhan disease is an inherited metabolic disorder characterized by overproduction of uric acid and neurobehavioral abnormalities. The purpose of this study was  to describe macrocytic erythrocytes as another common aspect of the phenotype.

Methods: The results of 257 complete blood counts from 65 patients over a 23-year period were collected from 2 reference centers where many patients are seen regularly. Read More

Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Dec;38(3):157-162

Center of Biomolecular Pharmaceutical Analyses, UKIM - Faculty of Pharmacy, Skopje, Republic of Macedonia.

Myelodysplastic syndrome (MDS) is a diverse group of clonal hematologic neoplasms. The only curative treatment for MDS is allogeneic stem cell transplantation (SCT). Epigenetic changes play an important role in the pathogenesis of MDS and treatment with DNA methyl transferase inhibitors, Azacitidine, significantly prolong the survival of high-risk MDS patients. Read More

Oncotarget 2018 Jan 19;9(4):4773-4786. Epub 2017 Dec 19.

The Children's Guild Foundation Down Syndrome Research Program, Genetics and Genomics Program and Department of Cancer Genetics and Genomics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA.

Individuals with Down syndrome (DS) frequently have hematopoietic abnormalities, including transient myeloproliferative disorder and acute megakaryoblastic leukemia which are often accompanied by acquired GATA1 mutations that produce a truncated protein, GATA1s. The mouse has been used for modeling DS based on the syntenic conservation between human chromosome 21 (Hsa21) and three regions in the mouse genome located on mouse chromosome 10 (Mmu10), Mmu16 and Mmu17. To assess the impact of the dosage increase of Hsa21 gene orthologs on the hematopoietic system, we characterized the related phenotype in the model which carries duplications spanning the entire Hsa21 orthologous regions on Mmu10, Mmu16 and Mmu17, and the /+;/+;; model which carries a mutation we engineered. Read More

Indian J Psychol Med 2018 Jan-Feb;40(1):68-73

Department of Pathology, Mahatma Gandhi Institute of Medical Sciences, Wardha, Maharashtra, India.

Background: Mood disorders and psychosis has been reported among the patients with macrocytosis; however, its prevalence among the first episode of psychosis and depression is unknown. The purpose of the study was to establish the prevalence of macrocytosis among the patients with the first episode of depression and psychosis.

Materials And Methods: In this cross-sectional study, three groups comprising patients with first episode of depression ( = 100), patients with the first episode of psychosis ( = 100), and healthy controls ( = 100) were included. Read More

J Public Health (Oxf) 2018 09;40(3):e296-e302

University College Dublin (UCD) Centre for Human Reproduction, Coombe Women and Infants University Hospital, Dublin, Ireland.

Background: The World Health Organization recommends that women take 400 µg of folate supplementation daily throughout pregnancy. We examined the relationship between total folate intake from the diet and supplements at the first prenatal visit and haematological indices at this visit and subsequently.

Methods: Women were recruited at their convenience and in addition to clinical and sociodemographic details, detailed questionnaires on dietary intakes and supplementation consumption were completed under supervision. Read More

Blood Adv 2018 01 4;2(1):36-48. Epub 2018 Jan 4.

Department of Haematological Medicine, King's College Hospital, London, United Kingdom.

Biallelic germline mutations in (regulator of telomere elongation helicase 1) result in pathologic telomere erosion and cause dyskeratosis congenita. However, the role of mutations in other bone marrow failure (BMF) syndromes and myeloid neoplasms, and the contribution of monoallelic mutations to disease development are not well defined. We screened 516 patients for germline mutations in telomere-associated genes by next-generation sequencing in 2 independent cohorts; one constituting unselected patients with idiopathic BMF, unexplained cytopenia, or myeloid neoplasms (n = 457) and a second cohort comprising selected patients on the basis of the suspicion of constitutional/familial BMF (n = 59). Read More