A retinopathy in young patient with co-inheritance of heterozygous alpha\u2009+\u2009\u2212thalassemia and sickle trait: a case report

Zohra Ouzzif,Sanae Bouhsain,Fatiha Benchrifa,Abdellah Dami,Asmae Biaz,Nezha Messaoudi,Samira El Machtani,Aissam El Maataoui,Zeinab Traore

doi:10.1186/s12886-017-0402-x

Zohra Ouzzif, Sanae Bouhsain + Show 7 more

Open Access

https://doi.org/10.1186/s12886-017-0402-x

Copy DOI

Abstract

BackgroundThe 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 PresentationA 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.ConclusionThis case report describes a proliferative retinopathy in a 16 year-old patient with co-inheritance of heterozygous alpha + −thalassemia and sickle trait.

Highlights

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
The carrier individuals of sickle cell disease known as sickle cell trait (SCT) have one gene mutation resulting in the Hb AS genotype. this is very rare SCT may have symptoms including splenic infarction at high altitude, with extreme exercise, or hypoxemia, isothenuria with loss of maximal renal concentrating ability, haematuria secondary to renal papillary necrosis, fatal exertional heat illness with exercise, sudden idiopathic death with exercise
This paper describes the clinical, and the laboratory characteristics of a 16 year-old-patient with SCT associated to heterozygous α + thalassemia

Summary

Introduction

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. Background Sickle cell anaemia (SCA) is associated with life-threatening systemic manifestations results from homozygous inheritance of the haemoglobin (Hb) -S gene from both parents’ results in a homozygote (Hb SS). In SCA, homozygous α + thalassaemia inhibits polymerisation of HbS reducing sickling and the clinical manifestations of the disease [4].

Results

Conclusion