Aim: Homozygous α -thalassaemia, also called haemoglo-bin (Hb) Bart’ s hydrops fetalis, has been thought to be a lethal condition. Due to prenatal diagnosis and intrauterine blood transfusions, a few patients with H...Aim: Homozygous α -thalassaemia, also called haemoglo-bin (Hb) Bart’ s hydrops fetalis, has been thought to be a lethal condition. Due to prenatal diagnosis and intrauterine blood transfusions, a few patients with Hb Bart’ s hydrops fetalis have survived. This fact raises the urgent questions of clinical management and appropriate follow-up of these patients, both of which are addressed in this article. Methods: We report on a 6.5-y-old patient with homozygous α -thalassaemia and review the literature of 13 other survivors published to date. Transfusion requirements were evaluated and the rate of liver iron accumulation was assessed by biomagnetic liver susceptometry before and after institution of iron-chelating therapy. Psychometric evaluation was carried out using Munich’ s Functional Development Test, the Columbia Mental Maturity Scale, the Kaufman Assessment Battery for Children, and the Peabody Picture Vocabulary Test. Results: Our patient had significant delay of psychomotor development. Psychometric evaluation at the age of 5 y revealed an IQ of 85 and an intellectual level of a 4-y-old child. Early tissue iron overload was seen, but a negative iron balance was achieved after institution of desferrioxamine treatment at dosages used for β -thalassaemia. Conclusion: Homozygous α -thalassaemia should no longer be regarded as a lethal condition. Early intervention during pregnancy and careful haematological as well as neuropsychological follow-up was able to provide long-term survival and good life quality in our patient.展开更多
文摘Aim: Homozygous α -thalassaemia, also called haemoglo-bin (Hb) Bart’ s hydrops fetalis, has been thought to be a lethal condition. Due to prenatal diagnosis and intrauterine blood transfusions, a few patients with Hb Bart’ s hydrops fetalis have survived. This fact raises the urgent questions of clinical management and appropriate follow-up of these patients, both of which are addressed in this article. Methods: We report on a 6.5-y-old patient with homozygous α -thalassaemia and review the literature of 13 other survivors published to date. Transfusion requirements were evaluated and the rate of liver iron accumulation was assessed by biomagnetic liver susceptometry before and after institution of iron-chelating therapy. Psychometric evaluation was carried out using Munich’ s Functional Development Test, the Columbia Mental Maturity Scale, the Kaufman Assessment Battery for Children, and the Peabody Picture Vocabulary Test. Results: Our patient had significant delay of psychomotor development. Psychometric evaluation at the age of 5 y revealed an IQ of 85 and an intellectual level of a 4-y-old child. Early tissue iron overload was seen, but a negative iron balance was achieved after institution of desferrioxamine treatment at dosages used for β -thalassaemia. Conclusion: Homozygous α -thalassaemia should no longer be regarded as a lethal condition. Early intervention during pregnancy and careful haematological as well as neuropsychological follow-up was able to provide long-term survival and good life quality in our patient.
