一个患有β0地中海贫血和血红蛋白哈沙龙的家庭中的中间型地中海贫血。
Thalassaemia intermedia in a family with beta 0-thalassaemia and Hb Hasharon.
作者信息
Zago M A, Costa F F, Bottura C
出版信息
J Med Genet. 1982 Dec;19(6):437-40. doi: 10.1136/jmg.19.6.437.
A Brazilian family of Italian descent is described in which the beta-thalassaemia gene is interacting with an alpha chain variant Hb Hasharon (alpha 47 Asp leads to His). One patient who was affected by homozygous beta 0-thalassaemia and heterozygous alpha Hasharon displayed the clinical picture of thalassaemia intermedia. Her haemolysate contained 8.6% Hb F Hasharon (alpha 2 Hasharon gamma 2) and 1.1% Hb A2, the remaining haemoglobin being Hb F. Hb A was not detected. Globin chain synthesis in reticulocytes showed non-alpha/total alpha ratios of 0.29, 0.39, and 0.73 respectively for the patient, the mother, and the father, who is heterozygous for both the beta 0-thalassemia and Hb Hasharon genes. The possible contribution of Hb Hasharon heterozygosity to the less severe expression of homozygous beta 0-thalassaemia is discussed.
本文描述了一个具有意大利血统的巴西家庭，其中β地中海贫血基因与一种α链变体Hb Hasharon（α47天冬氨酸突变为组氨酸）相互作用。一名患有纯合β0地中海贫血和杂合α Hasharon的患者表现出中间型地中海贫血的临床症状。她的溶血产物含有8.6%的Hb F Hasharon（α2 Hasharonγ2）和1.1%的Hb A2，其余血红蛋白为Hb F。未检测到Hb A。网织红细胞中的珠蛋白链合成显示，该患者、其母亲以及父亲（同时为β0地中海贫血和Hb Hasharon基因的杂合子）的非α/总α比值分别为0.29、0.39和0.73。文中讨论了Hb Hasharon杂合性对纯合β0地中海贫血较轻临床表现的可能作用。
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