Comorbidity of sickle cell trait and albinism: a cross-sectional survey in the Democratic Republic of the Congo

Kambale‐Kombi, Paul; Djang'Eing'A, Roland Marini; Opara, Jean-Pierre Alworong’a; Inena, Gaylor Inena Wa; Sadiki, Daddy Falay; Boemer, François; Tshilumba, Charles Kayembe; Batina‐Agasa, Salomon

doi:10.11604/pamj.2020.35.127.21113

Cited by 2 publications

(3 citation statements)

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“…Comorbidity of the sickle cell trait and OCA was recently described in the DRC in 221 individuals. This study demonstrated that the frequency of the sickle cell trait was equivalent in the two groups (82 albinos including 18.3% carriers of HbS and 139 non-albinos including 18% carriers of HbS) [ 20 ]. This study did not report any case of SCD in this population but the authors concluded that it is important to sensitize this category of people to be screened for hemoglobin S [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

“…This study demonstrated that the frequency of the sickle cell trait was equivalent in the two groups (82 albinos including 18.3% carriers of HbS and 139 non-albinos including 18% carriers of HbS) [ 20 ]. This study did not report any case of SCD in this population but the authors concluded that it is important to sensitize this category of people to be screened for hemoglobin S [ 20 ]. SCD patients present with numerous acute and chronic complications that contribute to early mortality and, consequently, national medical costs [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

“…The comorbidity of SCD and OCA was recently described in DRC in a study conducted in Kisangani, a city in northeastern DRC. The authors conclude that it is important to raise awareness about sickle cell disease, and the significance of prenuptial screening in this population as the sickle cell trait was found [ 20 ].…”

Section: Introductionmentioning

confidence: 99%

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Co-occurrence of sickle cell disease and oculocutaneous albinism in a Congolese patient: a case report

Mbiya

Kalenda²,

Kalenda

et al. 2021

J Med Case Reports

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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.

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Section: Discussionmentioning

confidence: 99%