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

Area of Science:

• Hematology
• Genetics
• Molecular Biology

Background:

• Sickle cell disease encompasses various genetic disorders, including Hemoglobin S (HbS) and Hemoglobin C (HbC) diseases, stemming from mutations in the beta-globin gene.
• These mutations alter red blood cell morphology, impacting oxygen transport and overall health.
• The prevalence and genetic landscape of these conditions in certain regions remain underexplored.

Observation:

• A Syrian family presented with a spectrum of hemoglobinopathies, including HbC trait and compound heterozygous HbC/HbS disease.
• Molecular analysis revealed specific genetic mutations, including the -α3.7 deletion, in affected family members.
• Clinical manifestations varied, with some individuals experiencing vaso-occlusive crises and others remaining asymptomatic.

Findings:

• The study identified compound heterozygous HbC/HbS with the -α3.7 deletion in three family members, presenting with clinical symptoms.
• Two family members were diagnosed with the HbC trait and exhibited no significant health issues.
• This represents the first documented instance of compound heterozygous HbC/HbS in a Syrian family.

Implications:

• This case expands the known geographical distribution of sickle cell disease variants.
• Understanding the genetic basis and clinical presentation of HbC/HbS is crucial for diagnosis and management in diverse populations.
• Further research is warranted to investigate the prevalence and clinical significance of these hemoglobinopathies in the Middle East.