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Diabetes Metab Syndr Obes 2021 3;14:2011-2018. Epub 2021 May 3.

Department of Biochemistry, School of Medicine, College of Medicine and Health Science, University of Gondar, Gondar, Ethiopia.

Background: Metformin is the first-line drug in the treatment of type 2 diabetes mellitus. Monitoring vitamin B deficiency associated with long-term and high-dose therapy is not a common practice in many clinical settings in Ethiopia.

Objective: The study aimed to measure levels of serum vitamin B and folate and to assess the macrocytic status of type 2 diabetes mellitus patients on metformin. Read More

Ann Cardiol Angeiol (Paris) 2021 May 4. Epub 2021 May 4.

Service de médecine vasculaire, CHU de Caen, Caen, France. Electronic address:

Introduction: Venous thromboembolic diseases have an incidence of 1.57/1000. Among patients under 50 years old, thrombophilia is assessed, the indications for which are increasingly stringent. Read More

Ann Clin Lab Sci 2021 Mar;51(2):213-219

Department of Clinical Laboratory Dokkyo Medical University Saitama Medical Center, Koshigaya, Japan.

Objective: Patients with warm autoimmune hemolytic anemia (WAIHA) present with anemia that is highly heterogeneous, and often have macrocytic anemia with inappropriately elevated mean corpuscular volume (MCV). The goal of this retrospectivecase study is to elucidate the characteristics of anemia in patients with idiopathic WAIHA.

Procedures: The hematological parameters were analyzed by automated hematology analyzers in 19 consecutive patients with idiopathic WAIHA. Read More

J Formos Med Assoc 2021 Apr 24. Epub 2021 Apr 24.

Department of Dentistry, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan; Department of Dentistry, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan; School of Dentistry and Graduate Institute of Clinical Dentistry, National Taiwan University, Taipei, Taiwan. Electronic address:

Background/purpose: Lacto-vegetarians (LVs) tend to have vitamin B12 deficiency (B12D). This study assessed whether 140 female LVs, including 16 B12D/LVs and 124 non-B12D/LVs, had significantly higher frequencies of microcytosis, macrocytosis, and of blood hemoglobin (Hb), red blood cell (RBC), and serum vitamin B12 deficiencies than 140 healthy control subjects (HCSs).

Methods: The complete blood count and serum vitamin B12 level in 140 female LVs and 140 female HCSs were measured and compared. Read More

Nutrients 2021 Mar 16;13(3). Epub 2021 Mar 16.

Division of Human Nutrition, Department of Global Health, Stellenbosch University, Cape Town 7505, South Africa.

The etiology of multifactorial morbidities such as undernutrition and anemia in children living with the human immunodeficiency virus (HIV) (HIV+) on antiretroviral therapy (ART) is poorly understood. Our objective was to examine associations of HIV and iron status with nutritional and inflammatory status, anemia, and dietary intake in school-aged South African children. Using a two-way factorial case-control design, we compared four groups of 8 to 13-year-old South African schoolchildren: (1) HIV+ and low iron stores (inflammation-unadjusted serum ferritin ≤ 40 µg/L), = 43; (2) HIV+ and iron sufficient non-anemic (inflammation-unadjusted serum ferritin > 40 µg/L, hemoglobin ≥ 115 g/L), = 41; (3) children without HIV (HIV-ve) and low iron stores, = 45; and (4) HIV-ve and iron sufficient non-anemic, = 45. Read More

Blood 2021 Mar 10. Epub 2021 Mar 10.

Etablissement francais du sang Ile de France, France.

The tight regulation of intracellular nucleotides is critical for the self-renewal and lineage specification of hematopoietic stem cells (HSCs). Nucleosides are major metabolite precursors for nucleotide biosynthesis and their availability in HSCs is dependent on their transport through specific membrane transporters. However, the role of nucleoside transporters in the differentiation of HSCs to the erythroid lineage and in red cell biology remains to be fully defined. Read More

J Clin Pathol 2020 Nov 24. Epub 2020 Nov 24.

Hematology Laboratory, Donostia University Hospital Aranzazu Building, San Sebastian, País Vasco, Spain.

Aim: To evaluate the influence of an algorithm designed to incorporate reflex testing according to haemogram results for analytical tests ordered to investigate anaemia.

Methods: In 2020, a new request for 'initial study of anaemia' was created in three primary care pilot centres for suspected anaemia or new anaemias. A haemogram was ordered and the remainder of the tests were created in a reflex manner according to an algorithm integrated in the laboratory information system that also generates a comment that is completed and validated by a haematologist. Read More

Brain Pathol 2021 Mar 29;31(2):333-345. Epub 2021 Jan 29.

Department of Neuroimmunology, Center for Brain Research, Medical University of Vienna, Vienna, Austria.

Iron accumulation in the CNS is associated with many neurological diseases via amplification of inflammation and neurodegeneration. However, experimental studies on iron overload are challenging, since rodents hardly accumulate brain iron in contrast to humans. Here, we studied LEWzizi rats, which present with elevated CNS iron loads, aiming to characterise choroid plexus, ependymal, CSF and CNS parenchymal iron loads in conjunction with altered blood iron parameters and, thus, signifying non-classical entry sites for iron into the CNS. Read More

Leukemia 2020 Nov 6. Epub 2020 Nov 6.

Centro di Ricerca Emato-Oncologica (CREO), University of Perugia, Perugia, 06132, Italy.

Recurrent loss-of-function mutations of BCL6 co-repressor (BCOR) gene are found in about 4% of AML patients with normal karyotype and are associated with DNMT3a mutations and poor prognosis. Therefore, new anti-leukemia treatments and mouse models are needed for this combinatorial AML genotype. For this purpose, we first generated a Bcor knockout mouse model characterized by impaired erythroid development (macrocytosis and anemia) and enhanced thrombopoiesis, which are both features of myelodysplasia/myeloproliferative neoplasms. Read More

Rev Med Interne 2020 Oct 28. Epub 2020 Oct 28.

Service de médecine interne et d'immunologie clinique, CHRU de Tours, Tours, France; Université de Tours, Tours, France.

Introduction: Myelodysplasia (MDS) can occur as systemic manifestations such as connective tissue diseases or vasculitis. Rheumatological manifestations are also described in such context. Herein, we report the observation of a patient with chronic myelomonocytic leukemia (CMML) who developed systemic manifestations: polymyalgia rheumatica and pericarditis. Read More

Front Physiol 2020 25;11:590180. Epub 2020 Sep 25.

Department of Biochemistry and Molecular Biology, College of Medicine, UF Health Cancer Center, Genetics Institute, Powell Gene Therapy Center, University of Florida, Gainesville, FL, United States.

TFII-I is a ubiquitously expressed transcription factor that positively or negatively regulates gene expression. TFII-I has been implicated in neuronal and immunologic diseases as well as in thymic epithelial cancer. Williams-Beuren Syndrome (WBS) is caused by a large hemizygous deletion on chromosome 7q11. Read More

J Clin Neurosci 2020 Oct 17;80:11-15. Epub 2020 Aug 17.

Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China. Electronic address:

Objectives: Subacute combined degeneration (SCD) is a demyelinating disease commonly caused by vitamin B12 deficiency. Several studies have been reported SCD could be accompanied by anemia. However, the correlation between anemia and clinical severity of SCD patients is unclear. Read More

Asia Pac J Clin Nutr 2020 ;29(3):513-522

Institute of Nutrition and Health, Qingdao University, Qingdao, China. Email:

Background And Objectives: The association between diet and macrocytic and hypochromic anemia in young Chinese men and women remains unclear. The present study aimed to investigate the relationship between dietary pattern and macrocytic and hypochromic microcytic anemia in young Chinese men and women.

Methods And Study Design: Some 4,840 first-year students (2,385 men and 2,455 women) were recruited for this study from Qingdao University, China. Read More

J Formos Med Assoc 2021 Feb 2;120(2):819-826. Epub 2020 Sep 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 the serum gastric parietal cell antibody (GPCA) positivity in 12.3% of burning mouth syndrome (BMS) patients. This study assessed whether GPCA-positive BMS (GPCABMS) patients had significantly higher frequencies of macrocytosis, anemia, hematinic deficiencies, and hyperhomocysteinemia than healthy control subjects or GPCA-negative BMS (GPCABMS) patients. Read More

Case Rep Oncol 2020 May-Aug;13(2):783-788. Epub 2020 Jul 2.

Department of Hematology, National Centre for Cancer Care and Research, Hamad Medical Corporation, Doha, Qatar.

The commonest etiologies of new-onset pancytopenia are congenital bone marrow failure syndromes, marrow space-occupying lesions, infections, and peripheral destruction. Nutritional deficiencies, including folate and vitamin B12, can occasionally cause pancytopenia. We report a 48-year-old gentleman who presented with a 1-week history of dizziness and upper gastrointestinal bleeding. Read More

Blood Adv 2020 08;4(15):3550-3557

Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, Paris, France.

Clonal hematopoiesis (CH) of indeterminate potential has been described in blood samples from large series of patients. Its prevalence and consequences are still not well understood because sequencing methods vary and because most studies were performed in cohorts comprising individuals with nonhematologic diseases. Here, we investigated the frequency of CH in 82 paired bone marrow and blood samples from carefully selected healthy adult volunteers. Read More

Cancer Res 2020 10 30;80(19):4172-4184. Epub 2020 Jul 30.

Department of Cancer Biology and Genetics, The Ohio State University Comprehensive Cancer Center, Columbus, Ohio.

Heterozygous mutations in the gene predispose women to breast and ovarian cancer, while biallelic BRCA1 mutations are a cause of Fanconi anemia (FA), a rare genetic disorder characterized by developmental abnormalities, early-onset bone marrow failure, increased risk of cancers, and hypersensitivity to DNA-crosslinking agents. BRCA1 is critical for homologous recombination of DNA double-strand breaks (DSB). Through its coiled-coil domain, BRCA1 interacts with an essential partner, PALB2, recruiting BRCA2 and RAD51 to sites of DNA damage. Read More

Ital J Pediatr 2020 Jul 23;46(1):102. Epub 2020 Jul 23.

Department of Pediatrics, "Lalla Seràgnoli," Hematology-Oncology Unit, Sant'Orsola-Malpighi Hospital, University of Bologna, Via Massarenti 11, 40137, Bologna, Italy.

Background: Dehydrated hereditary stomatocytosis (DHS) or hereditary xerocytosis is a rare, autosomal dominant hemolytic anemia characterized by macrocytosis, presence of stomatocytes and dehydration of red blood cells (RBCs). The dehydration is caused by a defect in cellular cation content. The most frequent expression of the pathology is hemolytic well-compensated anemia with high reticulocyte count, a tendency to macrocytosis, increased mean corpuscular hemoglobin concentration (MCHC) and mild jaundice. Read More

Mediterr J Hematol Infect Dis 2020 1;12(1):e2020043. Epub 2020 Jul 1.

Department of Medicine, Section of Internal Medicine, University of Verona, EuroBloodNet Referral Center for Iron Metabolism Disorders, Azienda Ospedaliera Universitaria Integrata Verona, 37138, Verona, Italy.

Older people are at risk for cobalamin (vitamin B) deficiency because of a number of common disorders (e.g., autoimmune gastritis) and drugs (e. Read More

J Dent Sci 2020 Jun 15;15(2):214-221. Epub 2020 May 15.

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

Background/purpose: Our previous study found that 170 of 884 burning mouth syndrome (BMS) patients have hyperhomocysteinemia. This study assessed whether these 170 BMS patients with hyperhomocysteinemia had significantly higher frequencies of anemia, hematinic deficiencies, and serum gastric parietal cell antibody (GPCA) positivity than 714 BMS patients without hyperhomocysteinemia or 442 healthy control subjects.

Materials And Methods: The blood hemoglobin (Hb) and serum iron, vitamin B12, folic acid, homocysteine, and GPCA levels in 170 BMS patients with hyperhomocysteinemia, 714 BMS patients without hyperhomocysteinemia, and 442 healthy control subjects were measured and compared. Read More

Laryngoscope 2021 03 26;131(3):E836-E845. Epub 2020 Jun 26.

Department of Neurosciences, Section of Otolaryngology, University of Padova, Treviso, Italy.

Objective: Mean corpuscular volume (MCV) has been shown in to be a reliable prognostic marker in other cancers; however, no evidence exists on its use in head and neck squamous cell carcinoma (HNSCC). This study aimed to investigate the association between MCV, hemoglobin, platelet count and albumin concentration, and survival in stage III/IVA-B HNSCC treated with concurrent chemoradiotherapy.

Study Design: Retrospective cohort study. Read More

Pulm Circ 2020 Apr-Jun;10(2):2045894020908787. Epub 2020 May 26.

Department of Physiology and Cell Biology, University of South Alabama, Mobile, AL, USA.

Pulmonary arterial hypertension is a fatal disease, where death is associated with right heart failure and reduced cardiorespiratory reserve. The Sugen 5416, hypoxia and normoxia Fischer rat model mimics human pulmonary arterial hypertension, although the cause(s) of death remains incompletely understood. Here, we hypothesized that these animals develop biventricular diastolic dysfunction that contributes to tissue hypoperfusion coincident with severe pulmonary arterial hypertension. Read More

Platelets 2021 Jan 14;32(1):141-143. 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