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...

Antioxidant phytochemicals are investigated as novel treatments for supportive therapy in beta-thalassemia. The dietary indicaxanthin was assessed for its protective effects on human beta-thalassemic RBCs submitted in vitro to oxidative haemolysis by cumene hydroperoxide. Indicaxanthin at 1.0-10 microM enhanced the resistance to haemolysis dose-dependently. In addition, it prevented lipid and h...

Thalassemia refers to a group of hereditary diseases caused by a defect in alpha or beta globin synthesis [1]. This impaired synthesis leads to a reduced supply of globin chains and results in the malformation of hemoglobin, which gives rise to microcytic hypochromic anemia. However, since synthesis of the unaffected globin occurs at a normal rate, the alpha or beta subunits accumulate dispropo...

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 ...

Hydroxyurea (HU) enhances fetal hemoglobin (Hb) production. An increase in total Hb level has been repeatedly reported during HU treatment in patients with sickle cell disease and in several patients with beta-thalassemia intermedia. Effects in patients with beta-thalassemia major are controversial. We now report a marked elevation of total Hb levels with HU that permitted regular transfusions ...

Hemoglobin (Hb) Q-Thailand, also known as G-Taichung, Mahidol, Kurashiki-I and Asabara, is an α-globin chain variant that results from a point mutation (GAC→CAC; Asp→His) at codon 74 of the α1-globin gene on chromosome 16p with a leftward single α-globin gene deletion (-α(4.2)). Co-inheritance of Hb Q-Thailand with α-thalassemia (mainly --(SEA)) results in thalassemia intermedia, termed Hb Q-H ...

Hemoglobin H (Hb H) disease is the most common form of thalassemia intermedia and has many features that require careful consideration in management. In the majority of cases, Hb H disease results from double heterozygosity for alpha(0)-thalassemia due to deletions that remove both linked alpha-globin genes on chromosome 16, and deletional alpha(+)-thalassemia from single alpha-globin gene dele...

OBJECTIVE Alpha thalassemia syndromes are caused by mutations on one or more of the four α-globin genes. Mutations could be either more commonly deletional or non-deletional. As some deletions (3.7 and 4.2) cause α+-thalassemia, some cause (-20.5, MED, THAI, FIL) α0 -thalassemia. The aim of this study was to determine alpha thalassemia mutations in patients with unsolved hypochromic microcytic ...

Sickle cell disease (SCD) is a genetic disorder in which emoglobin S (Hb S) predominates in red blood cells. It is onsidered a significant public health issue in Brazil.1–3 Sickle cell anemia (SCA, Hb SS) is the most common subype of SCD in the world. Although its clinical course is ariable, patients with SCA generally have the most severe henotype. SCD also includes the heterozygous combinatio...

Preliminary findings from these studies were presented at the 37th Annual Meeting of the American Federation for Clinical Research, 10-12 May 1980, in Washington, D. C. (Clin. Res. 28: 305A). Address all correspondence to Dr. Benz, Hematology Section, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. 06510. Received for publication 15 August 1980 and in revis...