Sickle cell anemia and pregnancy: Profile of hemodynamic changes in sickle cell pregnant women in Kinshasa.

Pregnancy is accompanied by hormonal changes. These relate mainly to progesterone and placenate growth factor. Hemodynamic changes are also observed.

Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa.

Background: Sickle Cell Anemia (SCA) is the most common genetic disease worldwide caused by a single mutation in the gene . The disease severity is very variable and depends on many factors. We evaluated the clinical and biological profile of sickle cell anemia children in rural Central Africa.

Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa.

Background: Sickle cell anemia (SCA) is a monogenic hemoglobinopathy associated with severe acute and chronic complications, with the highest incidence worldwide in Sub-Saharan Africa. The wide variability in clinical manifestations suggest that a uniform response to hydroxurea may not be attained. In view of a potential treatment with hydroxyurea (HU), we assessed the variability of clinical and hematological manifestations in a cohort of adults with SCA in Kinshasa, capital of the DR Congo in Central Africa.

Sickle cell disease and pregnancy profile of complicated malaria in 982 pregnancies in Kinshasa.

Introduction: Malaria is associated with high morbidity during pregnancy. Homozygous sickle cell pregnant women are even more exposed during complicated malaria. The objective of the study was to evaluate the maternal and fetal morbidity of homozygous sickle cell pregnant pregnant women with complicated malaria.

DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo.

Background: Hemoglobin-based tests form the reference diagnostic test for SCA. In limited resource countries, these tests face limitations including cost, low sensitivity due to recurrent transfusions in endemic malaria region, and interference from fetal hemoglobin in neonatal diagnostic. This study aimed at adapting DNA-based SCA tests to limited resource countries and evaluating the economic benefit.

Exploring association between MBL2 gene polymorphisms and the occurrence of clinical blackwater fever through a case-control study in Congolese children.

Background: Blackwater fever (BWF), one of the most severe and life-threatening forms of falciparum malaria, is characterized by acute massive intravascular haemolysis, often leading to acute renal failure. Thus far, the genetics of the underlying susceptibility to develop BWF is not fully elucidated. Deficiency in the MBL protein, an important component of the innate immune system, has previously been suggested to be a susceptibility factor for the development of severe malaria.

Homozygous Deletion Alpha-Thalassemia and Hereditary Persistence of Fetal Hemoglobin, Two Genetic Factors Predictive the Reduction of Morbidity and Mortality During Pregnancy in Sickle Cell Patients. A Report from the Democratic Republic of Congo.

Objective: to determine the beneficial role of Fetal Hemoglobin (FHb) and alpha-thal on fetal and maternal morbidity during pregnancy in sickle cell patients.

Study Site: the study was conducted at the sickle cell center of Kinshasa between 2008 and 2018.

Setting And Study Population: this is a documentary and analytical study that included 980 deliveries of homozygous sickle cell patients.

Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.

Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. Its occurrence in multiple affected members of a family is exceptional. The aim of this presentation was to describe a Central African family with typical VDW phenotype carrying an IRF6 gene deletion.

Non-syndromic cleft lip and/or cleft palate: Epidemiology and risk factors in Lubumbashi (DR Congo), a case-control study.

Purpose: To determine the incidence and risk factors of occurrence of non-syndromic cleft lip and/or cleft palate (NSCLP) in Lubumbashi.

Method: A case-control study was conducted in the health district of Lubumbashi from February 2012 to December 2015. An exhaustive sampling, collecting all newborns with cleft lip and/or cleft palate (CL ± P) in maternity wards was conducted.