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Prenat Diagn 2019 Jan 16. Epub 2019 Jan 16.

Maternal Fetal Medicine Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

Objective: To determine the best cutoff value of middle cerebral artery peak systolic velocity (MCA-PSV) for the diagnosis of fetuses with homozygous alpha thalassemia-1 disease.

Methods: Pregnancies at risk for fetal homozygous alpha thalassemia-1 disease at 18-22 weeks were recruited. MCA-PSV was measured before cordocentesis for hemoglobin typing and complete blood count. Read More

Haematologica 2019 Jan 10. Epub 2019 Jan 10.

Federal University of Minas Gerais, Brazil;

Hemoglobin 2019 Jan 9:1-5. Epub 2019 Jan 9.

b Surat Raktadan Kendra, Udhna Khatodara Urban Health Centre , Near Chosath Joganio Mata Mandir , Surat , Gujarat State , India.

Genetic structure of the Indian population is influenced by waves of several immigrants from West Eurasia. Therefore, genetic information of various ethnic groups is valuable to understand their origins, the pattern of migration as well as the genetic relationship between them. No genetic data is available on Pathare Prabhu, which is a small indigenous Hindu community from Mumbai, Maharashtra State, India. Read More

Hemoglobin 2019 Jan 9:1-3. Epub 2019 Jan 9.

a Child Health Department, Faculty of Medicine , University of Ioannina , Ioannina , Greece.

Hb D-Los Angeles (or Hb D-Punjab) (HBB: c.364G > C) is found worldwide and is derived from a point mutation in the β-globin gene prevalent in the Punjab region of Northwestern India. Heterozygous or homozygous inheritance does not cause significant medical problems, whereas association with other hemoglobinopathies, especially β-thalassemia (β-thal) and sickle cell disease, changes the phenotype. Read More

Int J Mol Sci 2019 Jan 8;20(1). Epub 2019 Jan 8.

Buddhist Tzu Chi Bioinnovation Center, Tzu Chi Foundation, Hualien 970, Taiwan.

Glioblastoma multiforme (GBM) is a type of brain tumor that is notorious for its aggressiveness and invasiveness, and the complete removal of GBM is still not possible, even with advanced diagnostic strategies and extensive therapeutic plans. Its dismal prognosis and short survival time after diagnosis make it a crucial public health issue. Understanding the molecular mechanisms underlying GBM may inspire novel and effective treatments against this type of cancer. Read More

Hemoglobin 2018 Jul 9;42(4):247-251. Epub 2019 Jan 9.

e Department of Medical Science II , Faculty of Medicine and Health Science, Universiti Sains Islam Malaysia , Nilai , Malaysia.

Nondeletional α-globin mutations are known to cause more serious clinical effects than deletional ones. A rare IVS-I-1 (G>A) (HBA2: c.95+1G>A) donor splice site mutation interferes with normal splicing of pre mRNA and results in activation of a cryptic splice site as well as a frameshift mutation. Read More

J Pediatr Hematol Oncol 2019 Jan 5. Epub 2019 Jan 5.

Departments of Pediatrics.

Background: Mutations causing α thalassemia are divided into deletion and nondeletion groups. In the nondeletion group, hemoglobin constant spring (Hb CS) and hemoglobin Pakse (Hb Pakse) are both caused by a termination codon mutation leading to elongation of the α2 globin gene. In the case of Hb CS, the mutation is TAA→CAA, whereas the mutation causing Hb Pakse is TAA→TAT. Read More

Hemoglobin 2019 Jan 7:1-4. Epub 2019 Jan 7.

a Prenatal Diagnostic Center , Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University , Guangzhou, Guangdong Province , People's Republic of China.

The aim of this study was to determine the hematological characteristics in a large group of Hb H (β4) patients with or without a coexisting β-thalassemia (β-thal), identified by a thalassemia screening program in mainland China. A total of 361 patients with Hb H disease were found, including 343 with deletional types and 18 with nondeletional types. β-Thalassemia was found in 28 (7. Read More

Hemoglobin 2019 Jan 3:1-8. Epub 2019 Jan 3.

c Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Equipe 'Biologie Vasculaire et du Globule Rouge' , Université Claude Bernard Lyon 1 , Communauté d'Universités et d'Establissments (COMUE) de Lyon, France.

The aim of this study was to evaluate the clinical, biological and genetic factors that could be associated with the use and dose of morphine during hospitalization for vaso-occlussive crisis (VOC) in adults with sickle cell disease. Ninety-nine hospitalizations for acute VOC (58 sickle cell disease patients aged 18 to 60 years, one to six hospitalizations each) were recorded; we investigated the associations between qualitative and quantitative opioid requirements and several biological, clinical, epidemiological and genetic parameters. Visual analog pain scale (VAS) was the only independent predictor of the qualitative need for morphine (mean value of 8. Read More

Blood Cells Mol Dis 2018 Dec 20;75:30-34. Epub 2018 Dec 20.

School of Life Sciences, AIPH University, Bhubaneswar, Odisha, India. Electronic address:

Background: Sickle cell disease (SCD) is a Mendelian single gene disorder with highly variable phenotypic expression. In the present study, we analyzed the influence of HbF, alpha thalassemia and other hematological indices to determine their association with acute pain episodes.

Method: This case control study consisted of SCD subjects with HbS phenotype experiencing three or more acute pain episodes in last twelve months (cases) and without any episode of acute pain during last twelve months (controls). Read More

Clin Biochem 2019 Jan 26;63:139-142. Epub 2018 Oct 26.

Servicio de Hematología y Hemoterapia, Hospital Clínico San Carlos, Madrid, Spain.

Background: In the α-thalassemia one of the less frequent mechanisms is the nonsense mutations, which generate the substitution of a triplet that encodes an amino acid for a stop codon and, therefore, protein synthesis stops prematurely. At present, 9 mutations of this type have been documented, 6 that affect the HBA2 gene and 3 that affect the HBA1 gene.

Objectives: We present a new mutation in CD16 of the HBA1 gene, where the change AAG>TAG generates a stop codon. Read More

Pediatr Int 2018 Dec 29. Epub 2018 Dec 29.

Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, 270 Rama VI Road, Ratchathewi District, Bangkok, 10400, Thailand.

Introduction: Reticulocyte hemoglobin equivalent (Ret-He), a direct measure of the hemoglobin in the young RBC, has been reported to be useful in the diagnosis of iron deficiency anemia (IDA) but may have some limitations in thalassemia trait. This study aims to evaluate the differences of Ret-He levels in a population of school-aged children and to assess the diagnostic value of Ret-He in identifying IDA in a thalassemia-prevalent area.

Methods: Blood samples from subjects were tested for CBC including Ret-He, ferritin, serum iron and total iron binding capacity. Read More

Medicine (Baltimore) 2018 Dec;97(52):e13557

Clinical Core Laboratory.

This study is a retrospective analysis of the prenatal genetic diagnosis results of fetuses with high risk of major thalassemia to provide information for clinical genetic counseling and to better control the birth of major thalassemia child in Hakka population. Totally, 467 fetuses in at-risk pregnancies were collected from Meizhou people's hospital from January 2014 to December 2017. Genomic DNAs were extracted from peripheral blood of the couples and villus, amniotic fluid or cord blood of the fetuses. Read More

J Neurosurg 2018 Dec 21:1-6. Epub 2018 Dec 21.

Departments of1Neurosurgery and.

Maffucci syndrome (MS) and Ollier disease (OD) are nonhereditary congenital diseases characterized by multiple enchondromas and/or chondrosarcomas. Recent studies have implicated somatic mosaic mutations of isocitrate dehydrogenase 1 or 2 (IDH1/2) as contributing to the pathogenesis of MS and OD. Occasionally, patients with these disorders may also present with central nervous system (CNS) tumors; however, detailed genetic analyses are limited. Read More

Pan Afr Med J 2018 31;30:238. Epub 2018 Jul 31.

Service de Gynécologie-Obstétrique, Hôpital Militaire d'Instruction Mohamed V, Rabat, Maroc.

Ballantyne syndrome or preeclampsia (Mirror syndrome) is a rare clinical entity. Ethiopathogenesis is still poorly elucidated. Diagnosis must be suspected in patients with maternal edematous syndrome associated with fetal anasarca. Read More

Ochsner J 2018 ;18(4):308-317

Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA.

Background: Children with sickle cell disease (SCD) often have infections, growth deficits, and impaired immunity, problems that also are observed in individuals with a vitamin A deficiency (plasma retinol concentration <20 μg/dL). The goal of this study was to investigate the association between vitamin A, health status, and the in vitro immune function of children with SCD.

Methods: Fifty-nine children (40 SS, 11 SC, and 8 Sβ [Sβ] hemoglobin genotypes) 9 months to 18 years old were investigated for plasma levels of retinol, retinol binding protein, C-reactive protein, alpha-1-acid glycoprotein, lymphocyte proliferation, and interleukin (IL)-2 activity in supernatant of phytohemagglutinin-treated lymphocytes. Read More

Hemoglobin 2018 Dec 17:1-5. Epub 2018 Dec 17.

a Departamento de Microbiología , Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Inmunología, Biotecnología y Genética/Cátedra de Genética , Buenos Aires , Argentina.

Hemoglobin (Hb) synthesis is a complex, well-coordinated process that requires molecular chaperones. These intervene in different steps: regulating epigenetic mechanisms necessary for the adequate expression of the α- and β-globin clusters, binding the nascent peptides and helping them acquire their native structure, preventing oxidative damage by free globin chains and preventing the cleavage of essential erythroid transcription factors. This study analyzed the distribution of the single nucleotide polymorphism (SNP) rs4296276 in intron 1 of the α-globin chaperone α Hb-stabilizing protein (AHSP) in the Argentinean population. Read More

J Pediatr Hematol Oncol 2018 Dec 14. Epub 2018 Dec 14.

Kanuni Sultan Suleyman Training and Research Hospital, Pediatric Hematology Oncology, Istanbul, Turkey.

Most common causes of microcytic anemia in children are iron deficiency anemia (IDA) and thalassemia. Differentiation of these and detection of coexistence is essential for genetic counseling and to set a treatment plan. Aim is to characterize the frequency of IDA and thalassemia trait (TT) in children presenting with hypochromic, microcytic anemia and to define the significance of blood count parameters in differential diagnosis. Read More

Pediatr Dev Pathol 2018 Dec 14:1093526618817655. Epub 2018 Dec 14.

1 Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, Canada.

Alpha thalassemia major is a hemoglobinopathy caused by the inactivation or deletion of all 4 α-globin alleles. We describe a case of α-thalassemia major with atypical ultrasound and neuropathological findings. The mother had her first prenatal visit at 27 4/7 gestational weeks. Read More

PLoS One 2018 6;13(12):e0208316. Epub 2018 Dec 6.

Universidade Federal de São Carlos (UFSCar), Departamento de Genética e Evolução, São Carlos, Brazil.

β-thalassemia is a worldwide distributed monogenic red cell disorder, characterized by an absent or reduced beta globin chain synthesis. The unbalance of alpha-gamma chain and the presence of pathological free iron promote severe oxidative damage, playing crucial a role in erythrocyte hemolysis, exacerbating ineffective erythropoiesis and decreasing the lifespan of red blood cells (RBC). Catalase, glutathione peroxidase and peroxiredoxins act together to protect RBCs from hydrogen peroxide insult. Read More

Ann Hematol 2018 Nov 30. Epub 2018 Nov 30.

Department of Internal Medicine, American University of Beirut Medical Center, PO Box 11-0236, Beirut, 11072020, Lebanon.

Beta-thalassemia can present with a wide spectrum of phenotypes determined by the coinheritance of α-thalassemia, hereditary persistence of fetal hemoglobin, and polymorphic variants in the BCL11A, HMIP, and HBB clusters. The codon 29 (cd29) mutation in the beta gene has been associated with a broad diversity of thalassemia phenotypes, possibly through genetic modifiers determining the genotype-phenotype relationship. In this study, we evaluated the effect of 10 single nucleotide polymorphisms (SNPs) on β-thalassemia severity in a group of 21 Lebanese patients bearing the cd29 mutation. Read More

Neurol India 2018 Nov-Dec;66(6):1726-1731

Department of Radiotherapy, Christian Medical College, Vellore, Tamil Nadu, India.

Background: The plethora of biomarkers available for the diagnosis and prognostication of gliomas has refined the classification of gliomas. The new World Health Organization (WHO) 2016 classification integrates the phenotypic and genotyping features for a more robust diagnosis.

Materials And Methods: Fifty gliomas with oligodendroglial morphology according to the WHO 2007 classification were analyzed for isocitrate dehydrogenase 1 and 2 (IDH1/2) mutations by polymerase chain reaction, 1p/19q status by fluorescent in situ hybridization (FISH), and IDH1 and X-linked alpha-thalassemia retardation (ATRX) expression by immunohistochemistry. Read More

Hematology Am Soc Hematol Educ Program 2018 11;2018(1):377-381

New York Blood Center, New York, NY.

Significant advances have been made in diagnosis and clinical management of inherited red cell membrane disorders that result in hemolytic anemia. Membrane structural defects lead to hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), whereas altered membrane transport function accounts for hereditary xerocytosis (HX) and hereditary overhydrated stomatocytosis (OHS). The degrees of membrane loss and resultant increases in cell sphericity determine the severity of anemia in HS and HE, and splenectomy leads to amelioration of anemia by increasing the circulatory red cell life span. Read More

Hematology Am Soc Hematol Educ Program 2018 11;2018(1):353-360

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom.

The α-thalassemia trait, associated with deletions removing both α-globin genes from 1 chromosome (genotype ζ αα/ζ--), is common throughout Southeast Asia. Consequently, many pregnancies in couples of Southeast Asian origin carry a 1 in 4 risk of producing a fetus inheriting no functional α-globin genes (ζ--/ζ--), leading to hemoglobin (Hb) Bart's hydrops fetalis syndrome (BHFS). Expression of the embryonic α-globin genes (ζ-globin) is normally limited to the early stages of primitive erythropoiesis, and so when the ζ-globin genes are silenced, at ∼6 weeks of gestation, there should be no α-like globin chains to pair with the fetal γ-globin chains of Hb, which consequently form nonfunctional tetramers (γ) known as Hb Bart's. Read More

J Nutr 2018 Dec;148(12):1903-1910

Department of Nutrition, University of California, Davis, Davis, CA.

Background: The relation between subclinical hemoglobinopathies and concentrations of the iron-regulatory hormone hepcidin is not well characterized.

Objective: We investigated the relation of hepcidin concentration with hemoglobinopathies among young children in Kenya.

Methods: We quantified serum hepcidin and ferritin in 435 Kenyan children aged 14-20 mo in a subsample of the Water, Sanitation, and Handwashing (WASH) Benefits Trial. Read More

Int J Lab Hematol 2018 Nov 29. Epub 2018 Nov 29.

National Institute of Immunohaematology, Mumbai, India.

Introduction: The hemoglobinopathies pose a significant health burden in India. Apart from the β thalassemias and sickle cell disorders, α thalassemias and structural hemoglobin variants are also common. Here we have reviewed the phenotypic and molecular diversity of hemoglobinopathies encountered at a referral center in western India over a period of 15 years. Read More

Hemoglobin 2018 Jul 29;42(4):236-242. Epub 2018 Nov 29.

e Department of Haematogenetics , National Institute of Immuno-Haematology , Parel, Mumbai , India.

Hemoglobinopathies and thalassemias are the most commonly encountered monogenic disorders of blood in humans, posing a major genetic and public health problem round the globe. Hb S (HBB: c.20A>T)-β-thalassemia (β-thal) is a compound aberrant heterozygosity with inconsistent phenotypic expression, which are poorly described and clinically mapped. Read More

Hemoglobin 2018 Jul 29;42(4):278-280. Epub 2018 Nov 29.

b Department of Gynecology and Obstetrics, Technology Center of Prenatal Diagnosis and Genetic Diseases Diagnosis, Nanfang Hospital , Southern Medical University , Guangzhou , Guangdong Province , People's Republic of China.

Despite the milder clinical severity of Hb H patients compared with those of Hb Bart's hydrops fetalis or patients with β-thalassemia major (β-TM), a few cases of Hb H hydrops fetalis syndrome have been reported so far. Here, we describe, for the first time in the Chinese population, one case of a neonate with Hb H hydrops fetalis syndrome caused by the - - (Southeast Asian) deletion in combination with the Hb Hirosaki (HBA2: c.132C>G, p. Read More

Mol Diagn Ther 2018 Nov 27. Epub 2018 Nov 27.

Department of Hematology, Hadassah-Hebrew University Medical Center, Ein-Kerem, POB 12,000, 91120, Jerusalem, Israel.

Cell oxidative status, which represents the balance between oxidants and antioxidants, is involved in normal functions. Under pathological conditions, there is a shift toward the oxidants, leading to oxidative stress, which is cytotoxic, causing oxidation of cellular components that result in cell death and organ damage. Thalassemia is a hereditary hemolytic anemia caused by mutations in globin genes that cause reduced or complete absence of specific globin chains (commonly, α or β). Read More

Haematologica 2018 Nov 22. Epub 2018 Nov 22.

KEMRI-Wellcome Trust Research Programme, Kilifi, Kenya

Few studies have described the dynamics of haemoglobin production in African populations with a high prevalence of haemoglobinopathies. We have used the BioRad Variant ClassicTM HPLC method to document the production patterns of the common haemoglobin variants HbA, HbA2, HbF and HbS, stratified by a+thalassaemia genotype, among 15,301 infants recruited to a study on the Coast of Kenya. Notably, we confirm that HbA2 measurements determined using this instrument are unreliable in HbAS and HbSS subjects. Read More

Hemoglobin 2018 Nov 19:1-5. Epub 2018 Nov 19.

a Genetics Research Center, University of Social Welfare and Rehabilitation Sciences , Tehran , Iran.

Numerical variation in α-globin genes is very important due to their roles as an effective factor for phenotype presentation. An unequal crossover from misalignment of a homologous sequence of an α-globin gene during meiosis can produce a numerical alteration. A single α-globin gene deletion is the most frequent mutation in α-thalassemia (α-thal) worldwide, while the additional α-globin chain is relatively common. Read More

Blood 2018 Nov;132(20):2209

ACT Pathology.

Ann Lab Med 2019 Mar;39(2):133-140

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

Background: Thalassemia is highly prevalent in Southeast Asia but is rare in Korea; however, Southeast Asian immigrant population is recently rising in Korea. We investigated the prevalence of thalassemia in Korea in the context of increasing immigration.

Methods: This prospective, observational, multicenter study was conducted between September 2015 and August 2017. Read More

Blood Adv 2018 Nov;2(21):3035-3044

Department of Pediatrics and.

In sub-Saharan Africa, inherited causes of anemia are common, but data are limited regarding the geographical prevalence and coinheritance of these conditions and their overall contributions to childhood anemia. To address these questions in Malawi, we performed a secondary analysis of the 2015-2016 Malawi Micronutrient Survey, a nationally and regionally representative survey that estimated the prevalence of micronutrient deficiencies and evaluated both inherited and noninherited determinants of anemia. Children age 6 to 59 months were sampled from 105 clusters within the 2015-2016 Malawi Demographic Health Survey. Read More

Cancer 2018 Dec 13;124(24):4650-4656. Epub 2018 Nov 13.

Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.

Background: Uterine leiomyomas (ULs) are the most common gynecologic tumors and affect 3 of every 4 women by the age of 50 years. The majority of ULs are classified as conventional tumors, whereas 10% represent various histopathological subtypes with features that mimic malignancy. These subtypes include cellular and mitotically active ULs and ULs with bizarre nuclei. Read More

Hemoglobin 2018 Nov 13:1-4. Epub 2018 Nov 13.

b Clinical and Chemical Pathology Department, Faculty of Medicine , Cairo University , Cairo , Egypt.

Hemoglobinopathies are the most common monogenic diseases in the world, causing many health problems worldwide. In Egypt, thalassemia is the most common cause of chronic hemolytic anemia and correlated with significant morbidity and mortality. One thousand Egyptian newborns were screened to detect α-thalassemia (α-thal) deletions using polymerase chain reaction (PCR)-based DNA analysis of cord blood samples. Read More

Medicine (Baltimore) 2018 Nov;97(45):e13034

Clinical Core Laboratory.

Thalassemia is an inherited autosomal recessive disorder with microcytic hypochromic anemia resulting from reduced or absent synthesis of 1 or more of the globin chains of hemoglobin. This study provided the insight into prevalence and molecular characterization of thalassemia in Hakka population. 14,524 unrelated subjects were included in our study from January 2015 to November 2017. Read More

Oncol Lett 2018 Nov 24;16(5):6652-6662. Epub 2018 Sep 24.

Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma, OK 73104, USA.

Jumonji C domain-containing 1A (JMJD1A) is a histone demethylase and epigenetic regulator that has been implicated in cancer development. In the current study, its mRNA and protein expression was analyzed in human colorectal tumors. It was demonstrated that JMJD1A levels were increased and correlated with a more aggressive phenotype. Read More

Am J Hematol 2019 Feb 26;94(2):177-183. Epub 2018 Nov 26.

Aghia Sophia Children's Hospital, Athens, Greece.

This study demonstrates the quantitative characteristics of the first patient-reported outcome (PRO) tool developed for patients with nontransfusion-dependent β-thalassemia (NTDT), the NTDT-PRO . A multicenter validation study was performed over 24 weeks, involving 48 patients from Italy, Lebanon, Greece, and Thailand. Most patients were female (68. Read More

PLoS One 2018 2;13(11):e0206928. Epub 2018 Nov 2.

MRC Molecular Haematology Unit, MRC Weatherall Institute Molecular Medicine, University of Oxford, Oxford, United Kingdom.

Introduction: Anaemia in women during pregnancy and child bearing age is one of the most common global health problems. Reasons are numerous, but in many cases only minimal attempts are made to elucidate the underlying causes. In this study we aim to identify aetiology of anaemia in women of child bearing age and to determine the relative contributions, effects and interactions of α- and β-thalassaemia in a region of the world where thalassaemia is endemic. Read More

Thromb Res 2018 12 18;172:61-66. Epub 2018 Oct 18.

Department of Hematology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Province 530021, China. Electronic address:

Background: Thalassemia is characterized by a hypercoagulable state in which the protein C (PC) pathway controls thrombosis. We investigated changes in PC, protein S (PS), antithrombin III (AT III) and soluble endothelial protein C receptor (sEPCR) in thalassemia.

Methods: A group of 129 patients with β-thalassemia major (β-TM), β-thalassemia intermedia (β-TI), α-thalassemia intermedia (α-TI) and combined α-/β-thalassemia (α + β-thal) were compared with 32 gender- and age-matched controls. Read More

Nan Fang Yi Ke Da Xue Xue Bao 2018 Sep;38(10):1250-1254

Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China.

Objective: To develop a rapid preimplantation genetic diagnosis method for -thalassemia SEA deletion based on blastocyst cell whole genome amplification (WGA) combined with short fragment Gap-PCR.

Methods: Using multiple displacement amplification (MDA) WGA technique, we established a double-fluorescent PCR system of the housekeeping genes GAPDH and β-actin for WGA quality testing, and a genotyping PCR system of mutant and normal short sequences for α-thalassemia SEA deletion. The sensitivity and accuracy of this method for diagnosis of -thalassemia SEA deletion were evaluated by detecting lymphocyte samples containing different cell numbers from carriers of SEA deletion. Read More

Scand J Clin Lab Invest 2018 Oct 30:1-5. Epub 2018 Oct 30.

a Department of Laboratory Medicine , Peking University Shenzhen Hospital , Shenzhen , Guangdong , China.

Hemoglobin A (HbA) is a widely utilized biomarker for the diagnosis and management of diabetes mellitus. Here, we describe an α1-globin chain hemoglobin variant and investigate its effect on HbA measurement. A 26-year-old pregnant woman was suspected to harbor a hemoglobin variant following HbA measurement during a routine prenatal examination using D10 (Bio-Rad). Read More

Mol Pharm 2018 Nov 12. Epub 2018 Nov 12.

Laboratory of Pharmacology, School of Pharmacy, Faculty of Health Sciences , Aristotle University of Thessaloniki , Thessaloniki 54124 , Macedonia , Greece.

Protein replacement therapy (PRT) has been applied to treat severe monogenetic/metabolic disorders characterized by a protein deficiency. In disorders where an intracellular protein is missing, PRT is not easily feasible due to the inability of proteins to cross the cell membrane. Instead, gene therapy has been applied, although still with limited success. Read More

Indian J Hematol Blood Transfus 2018 Oct 12;34(4):662-665. Epub 2018 Mar 12.

2Associated Medical Sciences Clinical Service Center, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand.

We compared hemoglobin (Hb) E levels and red cell parameters between heterozygous HbE with and without α-thalassemia trait and also determine their appropriated cut-off points for differentiating these two groups. High performance liquid chromatography analysis results and mean levels of red blood cell (RBC) parameters, including RBC count, total Hb, hematocrit, MCV, MCH and MCHC of heterozygous HbE with α-thalassemia trait (n = 183) and without α-thalassemia trait (n = 1437) were reviewed and compared. The α-thalassemia status in these samples was detected by real-time PCR with SYBR Green1 and high resolution melting analysis. Read More

Zhonghua Fu Chan Ke Za Zhi 2018 Oct;53(10):665-670

Department of Perinatal Medicine, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

To analyze prognosis-related risk factors of first trimester cystic hygroma (CH) fetuses in which nuchal translucency (NT) was found to be thickened. Tolly 216 singleton pregnancies in which fetal NT≥3.0 mm at the 11~13 weeks scan accepted invasive prenatal diagnosis in Beijing Gynecology and Obstetrics Hospital, Capital Medical University, from January 2014 to December 2015 were collected. Read More

BMJ Case Rep 2018 Oct 25;2018. Epub 2018 Oct 25.

Department of Obstetrics and Gynecology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

A 29-year-old nulliparous woman with a dichorionic diamniotic (DCDA) twin pregnancy was referred to our hospital at 16 weeks' gestation for prenatal diagnosis. She was diagnosed of Haemoglobin H Constant Spring (Hb H CS; --/αα) and her husband of alpha thalassemia-1 trait (--/αα). Detailed ultrasound showed that left twin had fetal anaemia and early signs of hydrops while the right one was normal. Read More

Hemoglobin 2018 May 22;42(3):143-147. Epub 2018 Oct 22.

a Department of Hematology , The Affiliated People's Hospital of Fujian University of Traditional Chinese Medicine , Fuzhou , Fujian Province , People's Republic of China.

The aim of this study was to explore the type and distribution of α- and β-thalassemia (α- and β-thal) mutations/deletions in Fuzhou, Fujian Province, People's Republic of China (PRC). For patients whose mean corpuscular volume (MCV) and mean corpuscular hemoglobin (Hb) (MCH) conforms to the characteristics of thalassemia, gap-polymerase chain reaction (gap-PCR) and PCR-reverse dot-blot assays were used to detect α- and β-thal mutations/deletions. Four hundred and twenty-eight cases of thalassemia were detected in 752 suspected cases of thalassemia, including 248 cases of α-thal (57. Read More

Clin Chim Acta 2018 Dec 17;487:318-324. Epub 2018 Oct 17.

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, Centro per la Riferibilità Metrologica in Medicina di Laboratorio (CIRME), Università degli Studi di Milano, Milano, Italy. Electronic address:

Background: Poor comparability between laboratories is often observed in the measurement of HbA. A measurement procedure of higher metrological order is needed for value assignment to a reference material that shall be used as primary calibrator.

Method: A reference measurement procedure has been developed based on isotope dilution mass spectrometry (IDMS). Read More

Blood Cells Mol Dis 2019 Feb 4;74:13-17. Epub 2018 Oct 4.

Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, 50200, Thailand. Electronic address:

Introduction: Identification of beta-thalassemia carrier in prenatal screening relies on the elevated Hb A level. Borderline Hb A levels pose a diagnostic challenge. We determined the HBB genotypes in subjects with borderline Hb A in northern Thailand and studied the effects of coinherited alpha-thalassemia on Hb A levels. Read More