Jornal da Síndrome de Down e Anormalidades Cromossômicas
Acesso livre

Abstrato

Association of Down Syndrome, Sickle Cell Disease, and Leukemia: A Case Report

Zohoun Lutéce*

Trisomy 21 or Down syndrome (DS) is the most common chromosomal disorder in the world. Its prevalence is 1/800 live births worldwide. It results from a presence of three copies of chromosome 21 in the cells. Certain factors, such as maternal age over 35 years and exposure to radiation, may favor its occurrence. Sickle cell disease (SCD) is due to a gene mutation with autosomal recessive transmission, resulting in an amino acid substitution (glutamic acid is substituted by lysine) at position 6 on the β globin chain of hemoglobin. It is widespread in sub-Saharan Africa, the Mediterranean and Southeast Asia. Its prevalence is estimated to be around 300,000 births per year worldwide, with 2/3 occurring in Africa. This two genetic diseases increase morbidity and mortality in affected children, although current medical advances have increased their life expectancy in advanced countries. In addition, the incidence of blood cancers is reported to be high in patients with either of these disease. To our knowledge, there is no direct link between these two illnesses. We report here the case of a sickle cell disease in infant with Down syndrome.