Abstract
BackgroundSickle 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 presentationA 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.ConclusionsThe 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.
Highlights
Sickle cell disease and oculocutaneous albinism are rare autosomal recessive disorders both related to mutations on chromosome 11
The co-inheritance of sickle cell disease and oculocutaneous albinism is a reality in the Democratic Republic of Congo, it is rarely described
Its origin is linked to a point mutation in the globin gene located on chromosome 11 (11p 11-5) giving rise to abnormal hemoglobin, called hemoglobin S (HbS) [5]
Summary
The co-inheritance of sickle cell disease and oculocutaneous albinism is a reality in the Democratic Republic of Congo, it is rarely described. Given the current state of our knowledge, specific surveillance, 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
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