| Summary: | BACKGROUND: Patients with compound heterozygosity for sickle hemoglobin (HbS) and hemoglobin DPunjab (Hb SDPunjab) may present with a variable clinical course and may be indistinguishable from those with homozygous HbS.
OBJECTIVES: The objective was to identify Hb SDPunjab phenotypes and the association of fetal Hb with disease severity.
PATIENTS AND METHODS: This descriptive, cross-sectional study included 42 (17 males and 25 females) patients with double heterozygosity for HbS and D. In addition to full clinical data, the complete blood count and Hb quantitation were assessed. Statistical analyses were performed using SPSS software version 20.0.
RESULTS: The mean age at diagnosis was 4.6 ± 0.7 years. Pallor and acute painful episodes (>90%) were the most common presenting symptoms, followed by jaundice (76.2%). Six patients (14.3%) had acute splenic sequestration crises and five (11.9%) had cardiac complications. Of the 42 studied patients, 17 (40.5%) had nonsevere disease and 25 (59.5%) had severe disease. Patients with severe disease had statistically significantly more blood transfusions (47.4 ± 10.27) than those with nonsevere disease (17.14 ± 1.82, P < 0.001). No significant association was reported between HbF level and either the number of blood transfusions or acute painful episodes requiring hospitalization/year.
Conclusion: Double heterozygosity for Hb S and DPunjab in Basra results in SCD with a severe phenotype, and the Hb F level did not modulate the disease severity.
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