Kattamis C, Tzotzos S, Kanavakis E, Synodinos J, Metaxotou-Mavrommati A
First Department of Paediatrics, Athens University, St. Sophie's Children's Hospital, Greece.
Lancet. 1988 Feb 27;1(8583):442-4. doi: 10.1016/s0140-6736(88)91234-2.
Clinical assessment, haematological studies, and globin gene mapping were performed in 21 Greek subjects with haemoglobin H disease. Clinical phenotypes ranged from mild, and virtually asymptomatic, to severe cases requiring transfusion. The severe clinical phenotype was exclusively associated with non-deletion genotypes, whereas the mild and intermediate phenotypes occurred with deletion genotypes. Patients with non-deletion genotypes had higher levels of Hb H. For deletion genotypes of haemoglobin H disease, the value of antenatal diagnosis is questionable. In non-deletion genotypes, antenatal diagnosis should be considered, because of the more severe clinical course observed in these patients.
对21例患有血红蛋白H病的希腊受试者进行了临床评估、血液学研究和珠蛋白基因定位。临床表型从轻度、几乎无症状到需要输血的严重病例不等。严重的临床表型仅与非缺失基因型相关，而轻度和中度表型则与缺失基因型相关。非缺失基因型患者的Hb H水平较高。对于血红蛋白H病的缺失基因型，产前诊断的价值值得怀疑。在非缺失基因型中，由于观察到这些患者的临床病程更为严重，应考虑进行产前诊断。
