OCCURRENCE OF UNUSUAL HAEMOGLOBINOPATHIES IN BALOCHISTAN: HB SD AND HB SE - PRESENTATION WITH OSTEOMYELITIS.
Rev Paul Pediatr
; 39: e2019365, 2021.
Article
em En, Pt
| MEDLINE
| ID: mdl-33566985
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteomielite
/
Eletroforese das Proteínas Sanguíneas
/
Hemoglobinopatias
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Anemia Falciforme
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Child
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
/
Pt
Revista:
Rev Paul Pediatr
Ano de publicação:
2021
Tipo de documento:
Article