Thrombotic Complication In Children With Non Transfusion Dependent Thalassaemia - A Case Series From Tertiary Care Centre

摘要

In our series, HbE-f thalassemia had severe presentation with transfusion dependency in all of them except one patient. They had cardiac and liver iron overload. Conclusion: Various factors affect the clinical phenotype of sickle cell disease. Although our patient had a severe transfusion dependent phenotype her brother was asymptomatic as his HbF levels were high. The cause of high HbF levels in the elder brother could not be ascertained. Thus, we conclude that even two siblings can have a variable clinical severity with respect to HbF levels. Genetic counselling is of utmost importance to prevent a severe transfusion dependent sickle cell disease.