Sickle cell-β thalassemia with concomitant hemophilia A: a rare presentation.

Abstract

TO THE EDITOR: Sickle cell-β thalassemia (HbS-β thalassemia) is a sickling disorder of red blood cells in varying severity, which results from compound heterozygosity for sickle cell trait and β thalassemia trait. In India, the frequency of the βS gene reaches as high as 40%, particularly in the tribal groups, whereas the incidence of the β thalassemia gene is around 3-4% in the general population [1]. Hence, the occurrence of HbS-β thalassemia due to inheritance of both defects is expected to be seen. The prevalence of sickle cell-β thalassemia in India has been reported as <1% in various studies [2]. HbS-β thalassemia was first described by Silvestroni and Bianco [3] in 1944 as a microdrepanocytic disease. Serjeant et al. [4] studied the manifestations of this disease. It is characterized by hepatosplenomegaly, chronic anemia, recurrent attacks of pyogenic infections, avascular necrosis of the bones, and subarachnoid hemorrhage. Hemophilia A is an X-linked recessive disease with a prevalence of 1 in 10,000 male births [5]. It has been estimated that in India 1,300 children with hemophilia are born each year. The chance of both these disorders being present together is extremely rare (1 in 250,000). Here we report an interesting case that not only shows the coinheritance of both these disorders but also the manner in which the presence of one has impacted the manifestation of the other.