Hemoglobin SD-Punjab with Stroke and Moyamoya Syndrome and Genotype-Phenotype Correlation: A Report of Two Siblings

Abstract

Background: Hemoglobin (Hb) SD-Punjab is a rare Hb disorder which may present at any age ranging from infancy to adulthood with variable clinical severity. There are very few reports of HbSD-Punjab with stroke, leading to moyamoya syndrome. We report two siblings with HbSD-Punjab, their diagnosis, genotype–phenotype correlation, and management. Clinical Description: Two siblings, ages 6 and 4 years, presented together to the emergency for the first time with different manifestations. The elder child had fever and acute onset right-sided weakness with anemia and splenomegaly, whereas the younger sister presented with fever and decreased appetite with anemia and splenomegaly. Management and Outcome: Both siblings showed severe anemia with the second sibling showing low platelet counts also. Magnetic resonance imaging of the brain of the elder sister showed chronic infarcts in the left frontal region in addition to acute infarction in the left cerebral hemisphere with angiography suggestive of moyamoya disease. Both siblings had blood pictures suggestive of hemolytic anemia and Hb electrophoresis showed co-inheritance of HbSD-Punjab. Both siblings responded to supportive treatment and blood transfusions and were started on oral hydroxyurea. At the genotype level, a combination of factors was noted with normal α-gene copies known to increase severity and heterozygosity for Xmn1 polymorphism explaining the higher HbF levels which decrease severity. Conclusion: Knowledge of the varied clinical presentation of hemolytic disorders and early detection is key to prevent more severe sequelae in such disorders.