与β地中海贫血特征相关的先天性纯红细胞再生障碍性贫血

Diamond-Blackfan anemia associated with beta-thalassemia trait.

作者信息

Tavil Betül, Cetin Mualla, Kuşkonmaz Bariş, Gümrük Fatma

机构信息

Hacettepe University Faculty of Medicine, Ihsan Dogramaci Children's Hospital, Pediatric Hematology Unit, Sihhiye, Ankara, Turkey.

出版信息

Am J Hematol. 2006 Mar;81(3):214-5. doi: 10.1002/ajh.20530.

DOI:10.1002/ajh.20530

PMID:16493623

Abstract

A 14-month-old boy was referred to our hospital for evaluation of severe anemia. In the bone marrow aspiration smear, normal cellularity with severe erythroblastopenia (3%) was observed. The hemoglobin electrophoresis of the patient and his father were compatible with the beta-thalassemia trait. Because macrocytosis of Diamond-Blackfan anemia (DBA) is masked by microcytosis of beta-thalassemia trait, the diagnosis of DBA co-existing with beta-thalassemia trait might be challenging. We report herein a case of DBA co-existing with beta-thalassemia trait in a Turkish boy.

摘要

一名14个月大的男孩因严重贫血被转诊至我院。在骨髓穿刺涂片中，观察到细胞成分正常，但有严重的成红细胞减少（3%）。该患者及其父亲的血红蛋白电泳结果符合β地中海贫血特征。由于β地中海贫血特征的小红细胞症掩盖了先天性纯红细胞再生障碍性贫血（DBA）的大红细胞症，因此诊断同时存在β地中海贫血特征的DBA可能具有挑战性。我们在此报告一例土耳其男孩同时患有β地中海贫血特征的DBA病例。