OCCURRENCE OF UNUSUAL HAEMOGLOBINOPATHIES IN BALOCHISTAN: HB SD AND HB SE - PRESENTATION WITH OSTEOMYELITIS.

Usman Tauseef Misbah Anjum Mohsina Noor Ibrahim Hina Sabih Baqai Abubakar Tauseef Marium Tauseef Muhammad Sohaib Asghar Maryam Zafar Uzma Rasheed Nimra Shaikh

Published in: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo (2021)

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.

Keyphrases

sickle cell disease
risk assessment
systematic review
risk factors
case report
gene expression
copy number
dna methylation
genome wide