Hemoglobin E heterozygotes (Hb AE) are asymptomatic and homozygotes (Hb EE) have a mild microcytic anemia . However, we had a 2 year old female child presenting with moderate pallor necessitating blood transfusions at 6 months to 1 year interval starting from eight months of age. Thorough clinical examination and investigative work-up revealed Hb E trait with Gaucher’s disease. To the best of o...

The small mean corpuscular volume (MCV) of red blood cell is one of the indicators for thalassemia and hemoglobinopathy screening. As other screening methods, it may have some degrees of limitation. The retrospective study was performed among 104 patients who had various kinds of thalassemia or hemoglobinopathy despite having normal hemoglobin (Hb) concentration and normal mean corpuscular volu...

Alpha (α)-thalassemia represents a group of recessively inherited hemoglobin disorders marked by deficient or absent synthesis of 1 to all 4 of the α-globin genes. Inactivation of 3 α-globin genes--either by deletional or nondeletional mutations--results in hemoglobin H (Hb H) disease. Patients with Hb H disease produce hemoglobin composed of all beta chains and have moderate to severe hemolyti...

The nucleotide at position 1858 of hepatitis B virus has importance in chronic hepatitis B (HB) because a cytosine at nt 1858 effectively prevents virus escape through the precore TAG stop codon mutation. The relatedness between nt 1858 and genotypes was analyzed using a new genotyping method based on restriction fragment length polymorphism (RFLP) analysis of an S gene amplicon. Seventy-three ...

Determination of HbA1c values with high performance liquid chromatography (HPLC) occasionally reveals hemoglobin anomalies with no or minimal clinical evidence. We coincidentally detected two cases of Hb Hasharon, an alpha globin gene mutation, in two heterozygous patients and one case of Hb NYU, a delta globin gene mutation, in another patient. Both anomalies have not been described in subject...

BACKGROUND Patients with hemoglobin (Hb) variants may produce false HbA1c measurement. This study aimed to detect the common Hb variants in southern Taiwan and to evaluate their effect on the determination of HbA1c. METHODS A total of 1,434 samples collected for HbA1c measurement at Kaohsiung Veterans General Hospital in southern Taiwan in March 2008 were submitted for Hb variant analysis by ...

OBJECTIVES The clinical analysis of hemoglobin by ion exchange chromatography can result in ambiguities in identification of the nature of the globin chain present in patient samples. LC/ESI-MS provides rapid and precise determination of globin chain masses. DESIGN AND METHODS Hemolysate of hemoglobin Q-India and hemoglobin S/D/F have been analyzed using ESI-MS. Tandem-MS has been used to est...

BACKGROUND Thalassemia and hemoglobinopathies are inherited red blood cell disorders found worldwide. Hemoglobin (Hb) E disorder is one of the hemoglobinopathies known to have the high prevalence in South East Asia. Most of transfusion-dependent thalassemias were genotypically compound heterozygous Hb E/ β-thalassemia. In Malaysia, the national screening program for thalassemia was implemented ...

Structural hemoglobin (Hb) variants typically are based on a point mutation in a globin gene that produce a single amino acid substitution in a globin chain. Although most are of limited clinical significance, a few important subtypes have been identified with some frequency. Homozygous Hb C and Hb S (sickle cell disease) produce significant clinical manifestations, whereas Hb E and Hb D homozy...

CONTEXT AND OBJECTIVE Hemoglobinopathies are among the commonest and most widespread genetic disorders worldwide. Their prevalence varies according to ethnic composition and/or geographical region. The aim of this study was to investigate the presence of hemoglobinopathies and their association with ethnicity among 1,004 newborns, to confirm the guideline of the Brazilian National Neonatal Scre...