一名同时遗传杂合子α + -地中海贫血和镰状细胞性状的年轻患者的视网膜病变：病例报告
A retinopathy in young patient with co-inheritance of heterozygous alpha + -thalassemia and sickle trait: a case report.
作者信息
Ouzzif Zohra, El Maataoui Aissam, Traore Zeinab, Biaz Asmae, El Machtani Samira, Dami Abdellah, Bouhsain Sanae, Messaoudi Nezha, Benchrifa Fatiha
机构信息
Biochemistry Department at Mohamed V Military Hospital, Rabat, Morocco.
Biochemistry Department, Faculty of Medicine And Pharmacy, Ibn Zohr University, Agadir, Morocco.
出版信息
BMC Ophthalmol. 2017 Jan 18;17(1):6. doi: 10.1186/s12886-017-0402-x.
BACKGROUND
The retinopathy is an uncommon complication in individuals with sickle cell trait except for the cases of sickle cell trait associated with systemic arterial hypertension, diabetes mellitus, syphilis, tuberculosis and sarcoidosis.
CASE PRESENTATION
A retinopathy in a 16 year-old child with no history of consanguinity in the parents revealed a sickle S trait associated to heterozygous alpha thalassemia. His mother has Sickle cell anaemia (Hb SS) and his father is a carrier of heterozygous alpha-thalassemia status that it was unknown before.
CONCLUSION
This case report describes a proliferative retinopathy in a 16 year-old patient with co-inheritance of heterozygous alpha + -thalassemia and sickle trait.
背景
视网膜病变在镰状细胞性状个体中是一种罕见的并发症，但与系统性动脉高血压、糖尿病、梅毒、结核病和结节病相关的镰状细胞性状病例除外。
病例报告
一名16岁儿童患有视网膜病变，其父母无近亲结婚史，检查发现其患有与杂合子α地中海贫血相关的镰状S性状。他的母亲患有镰状细胞贫血（Hb SS），他的父亲是杂合子α地中海贫血状态的携带者，此前并不知晓。
结论
本病例报告描述了一名16岁患者同时遗传杂合子α + -地中海贫血和镰状细胞性状并发增殖性视网膜病变。
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