Hemoglobin S/Hemoglobin Quebec-Chori Presenting as Sickle Cell Disease: A Case Report
| Autor: | Ching C. Lau, Donna Boruchov, Jennifer L. Oliveira, Erin Goode |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Male
Heterozygote Pediatrics medicine.medical_specialty Hemoglobins Abnormal Hemoglobin Sickle Priapism Anemia Sickle Cell Disease Compound heterozygosity 03 medical and health sciences 0302 clinical medicine medicine Humans Child Sickle cell trait business.industry Osteomyelitis Hematology Hypoxia (medical) Prognosis medicine.disease Hemoglobinopathy Oncology 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Hemoglobin medicine.symptom business 030215 immunology |
| Zdroj: | Journal of Pediatric Hematology/Oncology. 42:e775-e777 |
| ISSN: | 1077-4114 |
| DOI: | 10.1097/mph.0000000000001882 |
| Popis: | Background Sickle cell disease is a homozygous hemoglobinopathy with vaso-occlusive complications secondary to abnormal sickling of red blood cells under stressful conditions such as hypoxia. Children with sickle cell trait have a heterozygous genetic state, typically without symptoms. Observation An 8-year-old boy diagnosed with sickle cell trait was found to have multiple complications consistent with sickle cell disease, including pain crises, osteomyelitis, and priapism. Over a 6-year period, he underwent routine laboratory evaluations without a definitive diagnosis. The diagnosis of a compound heterozygous state of hemoglobin S/hemoglobin Quebec-Chori was eventually made on the basis of mass spectrometry and confirmed with hemoglobin subunit beta gene sequencing. Conclusion Expanding diagnostic evaluation in patients with abnormal clinical presentations is vital to making the correct diagnosis and hence earlier institution of appropriate management of rare hemoglobinopathies. |
| Databáze: | OpenAIRE |
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