Neonatal hemolytic anemia does not always indicate thalassemia: a case report
| العنوان: | Neonatal hemolytic anemia does not always indicate thalassemia: a case report |
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| المؤلفون: | Arwa A. Al-Harazi, Butheinah A. Al-Sharafi, Bilguis M. Al-Eryani |
| المصدر: | BMC Research Notes BMC Research Notes, Vol 10, Iss 1, Pp 1-5 (2017) |
| بيانات النشر: | BioMed Central, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 0301 basic medicine, Hypertrichosis, Hemolytic anemia, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Anemia, Hemolytic, Thalassemia, Porphyria, Erythropoietic, Congenital erythropoietic porphyria, Hepatosplenomegaly, lcsh:Medicine, Case Report, Alpha-thalassemia, General Biochemistry, Genetics and Molecular Biology, Infant, Newborn, Diseases, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Erythrodontia, alpha-Thalassemia, Internal medicine, Neonatal, medicine, Humans, Alpha thalassemia, Diagnostic Errors, lcsh:Science (General), lcsh:QH301-705.5, business.industry, lcsh:R, Infant, Newborn, General Medicine, medicine.disease, Dermatology, 030104 developmental biology, Endocrinology, lcsh:Biology (General), Child, Preschool, medicine.symptom, business, lcsh:Q1-390 |
| الوصف: | Background Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Hypertrichosis, erythrodontia and reddish-colored urine are often present, as well as hemolytic anemia accompanied by hepatosplenomegaly. Case presentation Here, we present a case of a 5-year-old male child of Middle Eastern origin who had been diagnosed as having alpha thalassemia and was undergoing chronic blood transfusions. He later presented with hypopigmented skin lesions and atrophy post-photosensitivity, persistent red-colored urine and hepatosplenomegaly. Laboratory investigations showed a high level of porphyrin metabolites in his plasma and erythrocytes. As a result, he was diagnosed as having Congenital erythropoietic porphyria. Conclusion Here, we diagnose a case of congenital erythropoietic porphyria which was initially missed, although the clinical features were clear (red-colored urine, hepatosplenomegaly and hemolytic anemia were present since birth, and skin manifestations appeared at the age of 22 months after being exposed to sunlight). After a DNA test was performed, the patient was initially diagnosed as having alpha thalassemia. We identified two causes of hemolytic anemia (congenital erythropoietic porphyria and alpha thalassemia) in this patient. The diagnosis of congenital erythropoietic porphyria was missed up until the child turned 5 years old. To our knowledge, this is the first case of hemolytic anemia to be reported with a diagnosis of both congenital erythropoietic porphyria and alpha thalassemia. |
| اللغة: | English |
| تدمد: | 1756-0500 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb5ff14c18fc0e1a167a902abed167cd http://europepmc.org/articles/PMC5596485 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....cb5ff14c18fc0e1a167a902abed167cd |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 17560500 |
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