Case report-unveiling a case of hemoglobin D-Punjab variant with iron deficiency anemia in Sindh (Pakistan).

Hemoglobin D variations are a group of hemoglobinopathies caused by mutations in the genes that control the synthesis of new globin chains. Hemoglobin D-Punjab is the most prevalent but frequently asymptomatic, it can occasionally cause mild to moderate hemolytic anemia, making diagnosis difficult and raising the risk of misdiagnosis. This article discusses a rare instance of a seventeen-year-old male in Sindh, Pakistan with iron deficiency anemia who was later found to have the Punjab variation of the hemoglobin D.

A rare case of Swyer syndrome from Pakistan in a young girl with primary amenorrhea and 46XY genotype.

Swyer syndrome is a condition where individuals with a 46XY karyotype, typically associated with males, display complete gonadal dysgenesis and lack testicular differentiation. This results from a mutation in the SRY gene, which is essential for testis development. As a consequence, affected individuals who appear phenotypically female have male chromosomes but do not develop functional testes.