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Case Reports
.2021 Feb 3:39:e2019365.
doi: 10.1590/1984-0462/2021/39/2019365. eCollection 2021.

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

[Article in English, Portuguese]
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Case Reports

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

[Article in English, Portuguese]
Usman Tauseef et al. Rev Paul Pediatr..

Abstract
in English, Portuguese

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.

Objetivo:: Descrever dois casos de variantes raras da hemoglobinopatia falciforme.

Descrição do caso:: Apresentamos aqui dois casos de hemoglobinopatias variantes das células falciformes, de famílias não relacionadas, no estado do Baluchistão (Paquistão), sendo um diagnosticado como doença da hemoglobina SD na eletroforese de hemoglobina, enquanto o outro com doença da hemoglobina SE. Ambos foram diagnosticados a partir da apresentação de osteomielite.

Comentários:: Hemoglobina SD (Hb SD) e hemoglobina SE (Hb SE) são hemoglobinopatias raras no mundo. A escassez de literatura disponível sugere que ambas são variantes da doença falciforme (DF) com natureza heterogênea. A prevalência de hemoglobinopatia falciforme com heterozigosidade composta foi encontrada com frequência variável na população do sudeste asiático. A frequência de osteomielite na DF é de 12 a 18%, mas sua ocorrência entre as hemoglobinopatias falciformes variantes é pouco relatada. Os dois casos reportados apresentaram osteomielite como característica de apresentação da doença.

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Conflict of interest statement

Conflict of interests : The authors declare no conflict of interests.

Figures

Figure 1
Figure 1. Radiological imaging depicting signs of osteomyelitis. (A) Plain radiograph of left leg indicates mild periosteal reaction and periosteal elevation with sub-periosteal collection and displacement and blurring of fat planes. (B) Magnetic resonance imaging with contrast showing marrow signal abnormality in the mid-shaft diaphysis of the left femur.
Figure 2
Figure 2. Magnetic resonance imaging showing signs of osteomyelitis. (A and B): MRI with contrast shows signal enhancement of the left femur with soft tissue signal abnormality, suggestive of osteomyelitis.
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