Compound heterozygosity for Hb S and Hb S-Oman: Case report

The haematological and clinical findings of a three year old Omani girl, phenotypically compound heterozygote for Hb S and Hb S Oman, are presented, further substantiated by family studies. The necessity of reviewing cases with sickle cell haemoglobin in Oman is stressed

Hemoglobin H disease in Muscat, Oman - a 5 year study

Published data indicate that Alpha thalassemia trait is prevalent in 45% of population of Sultanate of Oman. Recent unpublished data suggest that this prevalence is higher than 45%. Yet clinical suspicion or investigations into alpha-thalassemias are lacking. Moreover, Hemoglobin H disease is considered rare in Oman. We decided, therefore to look for Hemoglobin H disease and characterize the clinico-hematopathological features of the disease. Patient demographics, clinical details and detailed hematology parametry of Hemoglobin H disease cases, diagnosed by Department of Laboratory over a period of 5 years between February 2002 and January 2007 in patients presenting at Al-Nahdha Hospital and Genetic counseling unit in Muscat were compiled from hospital and laboratory records and analyzed. Twenty cases of Hemoglobin H disease in Omanis were diagnosed mainly during the second decade. 60% belonged to Al-Balushi tribe. 40% of cases presented with body pains. 35% presented with nonspecific symptoms. 50% of cases were erroneously labeled as Iron deficiency anemia. Microcytic erythrocytosis, high Red Cell Distribution Width, numerous misshapen Red Blood Cells, pseudothrombocytosis, low A2 and normal Ferritin were important diagnostic clues. Hemoglobin H inclusions in special reticulocyte smears and Hemoglobin H on HPLC or Electrophoresis were diagnostic. Hemoglobin H disease is common in Oman. The need to do HPLC, G6PD activity and Ferritin studies in all cases of anemia in Oman to avoid missing diagnosis of Hemoglobin H disease is stressed. This study is intended to create awareness about Hemoglobin H disease in order to diagnose early, treat rightly, counsel correctly and pave the path for prevention of alpha-thalassemia disease in Oman