The relationships among hemoglobin concentration (Hb). red cell 2.3-diphosphoglycerate (2,3-DPG), and p50 were studied in 20 chronically hypertransfused patients with thalassemia major. In the nontransfused control group. which included normal individuals as well as patients with sickle cell disease or iron deficiency anemia. the Hb correlated inversely with both 2.3-DPG concentration and p50. ...

The relationships among hemoglobin concentration (Hb). red cell 2.3-diphosphoglycerate (2,3-DPG), and p50 were studied in 20 chronically hypertransfused patients with thalassemia major. In the nontransfused control group. which included normal individuals as well as patients with sickle cell disease or iron deficiency anemia. the Hb correlated inversely with both 2.3-DPG concentration and p50. ...

Thalassemia is a common public health problem among Malays. Hemoglobin C (Hb C) is a hemoglobin beta variant resulting from a single base mutation at the 6th position of the beta-globin gene leading to the substitution of glycine for glutamic acid. Hb C is commonly detected in West Africans and in African American but has not been reported in Malaysia. It can be falsely diagnosed as HbE trait i...

Isoelectric focusing (IEF) of hemoglobin was compared to the classical chromatography of labeled globin chains for 22 antenatal diagnoses of hemoglobinopathies: 1 1 for /9 thalassemia. and 1 1 for sickle cell disease. In all cases. the two methods gave identical results. The diagnosis was confirmed after birth or abortion. Three fetuses homozygous for /1 thalassemia and one homozygous for sickl...

The level of Hb C in the erythrocytes of individuals with Hb C trait decreases significantly in the presence of coexisting alpha-thalassemia. This relationship may result from the higher affinity of beta A than beta C for limiting amounts of alpha-globin during hemoglobin assembly. This mechanism would predict that the beta A and beta C synthetic capacity in alpha-thalassemic individuals with H...

Introduction Thalassemia is a group of genetic disorders resulting in the decreased production of globin chains, alpha or beta, leading to the decreased production of hemoglobin (Hb). For the heterozygous state, it can be recognized by the microcytosis of its red blood cell or the decreased mean corpuscular volume (MCV) of less than 80 fL. For alpha-thalassemia-1 or alpha(0)thalassemia traits, ...

A family with 6-thalassemia has been disof these two entities was discussed. The covered, in which five members are proposita showed first thalassemia-like thought to be 6-thalassemia homozygotes stigmata with iron deficiency anemia, but with complete deficiency of Hb A2, and after iron therapy administered over 2 three members are probably heterozymonths, the stigmata disappeared. All gotes wi...

PURPOSE Patients with hemoglobin SC (Hb SC) and hemoglobin SB+ (Hb SB+) thalassemia suffer from frequent hospitalizations yet strong evidence of a clinical benefit of hydroxyurea (HU) in this population is lacking. Patients with recurrent hospitalizations for pain crisis are offered HU at our institution based on small cohort data and anecdotal benefit. This study identifies outcomes from a lar...

The discovery of alpha-hemoglobin stabilizing protein (AHSP), a chaperone for free alpha-hemoglobin (alpha-Hb), has provided a satisfactory solution to the perplexing problem of balanced globin levels for Hb production in erythroid cells in the face of a two-fold excess of alpha-globin to beta-globin gene dosage. Unmatched alpha-Hb is unstable and precipitates onto membranes, where the released...

BACKGROUND The hemoglobinopathies refer to a diverse group of inherited disorders characterized by a reduced synthesis of one or more globin chains (thalassemias) or the synthesis of structurally abnormal hemoglobin (Hb). The thalassemias often coexist with a variety of structural Hb variants giving rise to complex genotypes and an extremely wide spectrum of clinical and hematological phenotype...