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.
Subject(s)
Anemia, Sickle Cell/diagnosis , Anemia, Sickle Cell/genetics , Blood Protein Electrophoresis/methods , Hemoglobinopathies/genetics , Osteomyelitis/diagnosis , 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 OutcomeABSTRACT
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.
RESUMO 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.
Subject(s)
Humans , Male , Female , Child , Osteomyelitis/diagnosis , Blood Protein Electrophoresis/methods , Hemoglobinopathies/genetics , Anemia, Sickle Cell/diagnosis , Anemia, Sickle Cell/genetics , Osteomyelitis/etiology , Osteomyelitis/drug therapy , Pakistan/ethnology , Magnetic Resonance Imaging/methods , Radiography/methods , Mass Screening/standards , Mass Screening/ethics , Prevalence , Administration, Oral , Treatment Outcome , Administration, Intravenous , Hemoglobinopathies/diagnosis , Hemoglobinopathies/blood , Heterozygote , Hydroxyurea/administration & dosage , Hydroxyurea/therapeutic use , 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 useABSTRACT
We present a case of sigmoid volvulus in a young male patient with culture-proven Salmonella Typhi in the blood which was sensitive to Meropenem and Azithromycin only, presented with fever, vomiting, loose stools, hematochezia, abdominal distention and tenderness with no signs of perforation on erect chest x-ray. Further, radiological imaging showed signs of sigmoid volvulus. An urgent colonic decompression with untwisting of the mesentery was performed. In our case, it can be said that sigmoid volvulus was developed as a complication of multiple drug-resistant strains of Salmonella Typhi. The resistance is acquired by alteration in the genome sequence. Currently, it is important to control such an unknown outbreak of multiple drug-resistant strains of Salmonella Typhi as it is a serious health care issue of disease control and prevention in Pakistan.
