Matthews J H, Rowlands D, Wood J K, Wood W G
Clin Lab Haematol. 1981;3(2):121-7. doi: 10.1111/j.1365-2257.1981.tb01321.x.
This report describes the clinical and haematological findings in three siblings homozygous for G gamma delta beta thalassaemia in an Indian family. There was a mild to moderate anaemia and markedly abnormal red cell morphology. Haemoglobin analysis showed 100% Hb F, solely of the G gamma type, with a pancellular but uneven distribution. Considerable chain imbalance was detectable in globin synthesis studies. In contrast to five previously reported cases, these children were essentially asymptomatic and have never required transfusions.
本报告描述了一个印度家庭中三名患Gγδβ地中海贫血纯合子的兄弟姐妹的临床和血液学检查结果。存在轻度至中度贫血，红细胞形态明显异常。血红蛋白分析显示100%为Hb F，且仅为Gγ型，呈全细胞性但分布不均。在珠蛋白合成研究中可检测到明显的链失衡。与之前报道的5例病例不同，这些患儿基本无症状，从未需要输血。
