1. OCCURRENCE OF UNUSUAL HAEMOGLOBINOPATHIES IN BALOCHISTAN: HB SD AND HB SE - PRESENTATION WITH OSTEOMYELITIS.
- Author
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Tauseef U, Anjum M, Ibrahim M, Baqai HS, Tauseef A, Tauseef M, Asghar MS, Zafar M, Rasheed U, and Shaikh N
- Subjects
- Administration, Intravenous, Administration, Oral, Anemia, Sickle Cell complications, Anemia, Sickle Cell epidemiology, Anti-Bacterial Agents administration & dosage, Anti-Bacterial Agents therapeutic use, Antisickling Agents administration & dosage, Antisickling Agents therapeutic use, Child, Female, Hemoglobinopathies blood, Hemoglobinopathies diagnosis, Heterozygote, Humans, Hydroxyurea administration & dosage, Hydroxyurea therapeutic use, Magnetic Resonance Imaging methods, Male, Mass Screening ethics, Mass Screening standards, Osteomyelitis drug therapy, Osteomyelitis etiology, Pakistan ethnology, Prevalence, Radiography methods, Treatment Outcome, Anemia, Sickle Cell diagnosis, Anemia, Sickle Cell genetics, Blood Protein Electrophoresis methods, Hemoglobinopathies genetics, Osteomyelitis diagnosis
- Abstract
Objective: To describe two cases of unusual variants of sickle cell disease., Case Description: We present two cases of sickle cell disease variants (haemoglobinopathies), from unrelated families, in the state of Balochistan (Pakistan). One was diagnosed with sickle cell disease in the haemoglobin electrophoresis, whereas the other was diagnosed with sickle cell SE disease. Both were diagnosed based on the presentation of osteomyelitis., Comments: Haemoglobin SD disease (Hb SD) and haemoglobin SE disease (Hb SE) are rare haemoglobinopathies in the world. The lack of available literature suggests that both are variants of sickle cell disease (SCD), with heterogeneous nature. The prevalence of sickle cell disease with compound heterozygotes was found at a variable frequency in the population of the Asian Southeast. The frequency of osteomyelitis in SCD is 12 to 18%, but its occurrence among variant haemoglobinopathies is little reported. Both reported cases presented with osteomyelitis as a characteristic of the disease presentation.
- Published
- 2021
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