婴儿遗传性铁粒幼细胞性贫血1例报告

Congenital sideroblastic anemia in infants: a case report and literature review

目的探讨婴儿遗传性铁粒幼细胞性贫血的基因变化、临床表现、诊断与治疗。方法回顾分析1例婴儿期发病的遗传性铁粒幼细胞性贫血患儿的临床资料。结果男性5月龄婴儿,因面色苍白就诊;实验室检查示小细胞低色素性贫血,血清铁58.30μmol/L;骨髓涂片铁染色,外铁+++,内铁76%,其中环铁54%。高通量测序示ALAS2基因半合子突变,c.1565C>A;生物信息学软件预测显示为有害突变,可能影响蛋白质的功能;患儿母亲为杂合变异,属于X连锁隐性遗传;查阅文献,未见报道。患儿临床确诊为遗传性铁粒幼细胞性贫血后,经维生素B6治疗有效。结论遗传性铁粒幼细胞性贫血罕见,新发现ALAS2基因的半合子突变致病基因。

Objective To explore the genetic changes, clinical manifestations, diagnosis and treatment of congenital sideroblastic anemia in infants. Method The clinical data of congenital sideroblastic anemia in a child were retrospectively analyzed. Results A 5-month-old boy visited for pale complexion. Laboratory examination showed microcytic hypochromic anemia with serum iron of 58.30 μmol/L. Iron staining of bone marrow smears showed the outer iron was +++, and the inner iron accounted for 76%, of which the ring iron was 54%. High-throughput sequencing showed that the ALAS2 gene has a hemizygote mutation, C.1565C > A, which was predicted a harmful mutation by bioinformatics software and may affect the function of proteins. The mother of the child had a heterozygous mutation, which belonged to X-linked recessive inheritance. Literature was reviewed and no report was found. The child was clinically diagnosed with congenital sideroblastic anemia and was effectively treated with vitamin B6. Conclusion Congenital sideroblastic anemia is rare, and a novel hemizygous mutation in the ALAS2 gene has been found.