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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Mbiya Mukinayi, Benoît Mpoyi Kalenda, John Kalombo Kalenda, Didier Disashi Tumba, Ghislain Gulbis, Béatrice |
| Abstract | Background Sickle cell disease and oculocutaneous albinism are rare autosomal recessive disorders both related to mutations on chromosome 11. The diagnosis of patients suffering from both pathologies is necessary to enable dedicated monitoring of any complications at the ophthalmic and skin level. However, few cases are described in the literature. Case presentation A 14-month-old Congolese male child affected by oculocutaneous albinism, presented with pallor and jaundice. Blood indices revealed severe hemolytic anemia, which led to the diagnosis of sickle cell disease. The patient received a blood transfusion and close follow-up. Conclusions The co-inheritance of sickle cell disease and oculocutaneous albinism is a reality in the Democratic Republic of Congo, although it is rarely described. Given the current state of our knowledge, specific surveillance, specifically regarding cutaneous and ophthalmological complications, should be offered in this particular population. To enable this dedicated follow-up, sensitization to screening for sickle cell anemia in albino individuals should be carried out. |
| Related Links | https://jmedicalcasereports.biomedcentral.com/counter/pdf/10.1186/s13256-021-03214-5.pdf |
| Ending Page | 6 |
| Page Count | 6 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 17521947 |
| DOI | 10.1186/s13256-021-03214-5 |
| Journal | Journal of Medical Case Reports |
| Issue Number | 1 |
| Volume Number | 15 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2021-12-19 |
| Access Restriction | Open |
| Subject Keyword | Medicine Public Health General Practice Family Medicine Primary Care Medicine Surgical Oncology Internal Medicine Sickle cell disease Oculocutaneous albinism Mbujimayi Democratic Republic of the Congo Medicine/Public Health |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Medicine |
| Journal Impact Factor | 0.9/2023 |
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