Compound heterozygosity for Hb C/Hb S (HBB: c.19G>A/HBB: c.20A>T) diseases observed in a Syrian family: a case report

Abstract

Introduction: Hemoglobin S and Hemoglobin C disease is a type of sickle cell disease caused by two mutations at codon 6 of β-globin gene. These mutations cause changes in the shape of the red blood cells. Little is known about its presence in our region. Case Presentation: The authors describe a case of a Syrian family consisting of father, mother, two daughters, and son. The mother presented with anemia, episodes of fatigue, and extreme pain (vaso-occlusive crisis). Beta and alpha-globin gene mutations have been analyzed using molecular detection methods. The results revealed that, the mother, second daughter, and son were all double heterozygous for hemoglobin C and S associated with the –α3.7 deletion mutation. The husband and the first daughter were found to have the hemoglobin C trait. Discussion: Hemoglobin (Hb) SC has been known to have a higher frequency in black populations and is restricted to persons of West African descent. In our case, all family members had dark brown skin color, and they were all diagnosed with Hb C or Hb SC. The mother, second daughter, and son had the clinical manifestations associated with Hb SC disease, and their values of mean cell volume and mean cell hemoglobin were low due to the presence of the –α3.7 deletion mutation. The husband and the first daughter do not have any serious health problems. Conclusions: To the best of the knowledge, this is the first case of compound heterozygous for hemoglobin C and S to be reported from a Syrian family.