Concomitant inheritance of α‐thalassemia in β°‐thalassemia/hb e disease
Concomitant inheritance of α‐thalassemia in β°‐thalassemia/hb e disease
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β°地中海贫血/hb e 病中同时遗传 α 地中海贫血
DOI：
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发表时间：
1985
期刊：
影响因子：
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通讯作者：
P. Wasi
中科院分区：
文献类型：
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作者：
P. Winichagoon;S. Fucharoen;D. Weatherall;P. Wasi
采用限制性内切酶DNA图谱法检测β°地中海贫血/血红蛋白（Hb）E病患者的α地中海贫血伴发遗传。在42例β°地中海贫血/Hb E疾病患者中，发现7例具有α地中海贫血-2单倍型。其中，5例属于α地中海贫血-2的3.7-kb型，其余2例属于4.2-kb型。所有7名α地中海贫血-2单倍型患者的血红蛋白水平均为7.4 g/dl或以上;未检测到α地中海贫血的患者的血红蛋白水平均高于或低于7.4 g/dl。后者定期去诊所，前者偶尔去。这些结果表明，α地中海贫血的伴随遗传可以减轻β°地中海贫血/Hb E疾病的严重程度。未能在这些患者中发现α地中海贫血-1单倍型表明α地中海贫血-1与β°地中海贫血/Hb E的伴随遗传可能导致个体临床上不存在的轻微病症。事实上，许多没有可检测的α地中海贫血单倍型的患者也有7.4 g/dl或更高的血红蛋白水平，这表明还有其他因素导致β°地中海贫血/Hb E疾病的轻度。
Concomitant inheritance of α‐thalassemia in patients with β°‐thalassemia/hemoglobin (Hb) E disease was detected by restriction endonuclease DNA mapping. Among 42 patients with β°‐thalassemia/Hb E disease, seven were found to have an α‐thalassemia‐2 haplotype. Of these, five belonged to the rightward or 3.7‐kb type of α‐thalassemia‐2 and the remaining two the leftward or 4.2‐kb type. All the seven patients with α‐thalassemia‐2 haplotype had hemoglobin levels of 7.4 g/dl or above; those without detectable α‐thalassemia had hemoglobin levels both higher and lower than 7.4 g/dI. The latter attended the clinic regularly, the former did occasionally. These findings suggest that concomitant inheritance of α‐thalassemia can alleviate the severity of β°‐thalassemia/Hb E disease. Failure to find α‐thalassemia‐1 haplotype in these patients suggests that concomitant inheritance of α‐thalassemia‐1 with β°‐thalassemia/Hb E might lead to so mild a condition that the individuals do not present clinically. The fact that many patients without a detectable α‐thalassemia haplotype also had hemoglobin levels of 7.4 g/dl or higher suggests that there are additional factors responsible for the mildness of β°‐thalassemia/Hb E disease.
两个地中海人群的α-地中海贫血。
影响因子：
20.3
作者：
Pirastu,M;Lee,KY;Dozy,AM;Kan,YW;Stamatoyannopoulos,G;Hadjiminas,MG;Zachariades,Z;Angius,A;Furbetta,M;Rosatelli,C;Cao,A
通讯作者：
Cao,A
α-地中海贫血对黑人家族中 β-地中海贫血/HPFH 杂合子表达的影响。
影响因子：
20.3
作者：
Beutler,E;Turner,E;Kuhl,W
通讯作者：
Kuhl,W
脐带血中的 Hb Bart 水平和 α-珠蛋白基因的缺失。
影响因子：
20.3
作者：
Lie-Injo,LE;Solai,A;Herrera,AR;Nicolaisen,L;Kan,YW;Wan,WP;Hasan,K
通讯作者：
Hasan,K