Further Cases of Hb Q-H Disease (Hb Q-α Thalassemia)
نویسندگان
چکیده
منابع مشابه
Three cases of Hb Q-H disease found in a Cantonese family.
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 ...
متن کاملThe compound state: Hb S/beta-thalassemia☆
Sickle cell disease (SCD) results from a single amino acid substitution in the gene encoding the -globin subunit ( 6Glu > Val) that produces the abnormal hemoglobin (Hb) named Hb S. SCD has different genotypes with substantial variations in presentation and clinical course (Table 1).1,2 The combination of the sickle cell mutation and beta-thalassemia ( -Thal) mutation gives rise to a compound h...
متن کاملMolecular characterization of thalassemia intermedia with homozygous Hb Malay and Hb Malay/HbE in Thai patients.
Patients with thalassemia intermedia have a mild anemia and survive without needing regular blood transfusions.1 Here we report two cases of Thai patients with β-thalassemia intermedia caused by homozygosity of hemoglobin Malay (Hb Malay; α2β219Asn-Ser)2 and compound heterozygosity of Hb Malay and hemoglobin E (Hb E; α2β226Glu-Lys). Both patients presented with a history of anemia with marked m...
متن کاملHb H disease: clinical course and disease modifiers.
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...
متن کاملHydroxyurea decreases hospitalizations in pediatric patients with Hb SC and Hb SB+ thalassemia.
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...
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ژورنال
عنوان ژورنال: Blood
سال: 1966
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v28.6.830.830