Which genotype is typically associated with the form of sickle cell disease that usually presents with splenomegaly and signs of infarction?

Which genotype is typically associated with the form of sickle cell disease that usually presents with splenomegaly and signs of infarction?

• A. Heterozygous
• B. Homozygous
• C. Compound heterozygous
• D. Hemophilia A

Answer: (B)

In sickle cell disease, the classic severe form comes from inheriting the HbS mutation from both parents, making you homozygous for HbS. This genotype causes red blood cells to sickle under low oxygen, leading to vaso-occlusion that frequently affects the spleen. Early in life, splenic sequestration can cause splenomegaly, and repeated infarctions in the spleen produce infarction signs. Over time, the spleen often undergoes autosplenectomy due to cumulative damage. Heterozygous individuals (sickle cell trait) are usually asymptomatic and don’t typically have splenomegaly or infarction, while compound heterozygous states can cause disease but the pattern described is most characteristic of the homozygous HbS genotype. Hemophilia A is not related to sickle cell disease.

In sickle cell disease, the classic severe form comes from inheriting the HbS mutation from both parents, making you homozygous for HbS. This genotype causes red blood cells to sickle under low oxygen, leading to vaso-occlusion that frequently affects the spleen. Early in life, splenic sequestration can cause splenomegaly, and repeated infarctions in the spleen produce infarction signs. Over time, the spleen often undergoes autosplenectomy due to cumulative damage. Heterozygous individuals (sickle cell trait) are usually asymptomatic and don’t typically have splenomegaly or infarction, while compound heterozygous states can cause disease but the pattern described is most characteristic of the homozygous HbS genotype. Hemophilia A is not related to sickle cell disease.