3 results found
Article
Hyperimmunoglobulin IgE syndrome
Hyperimmunoglobulin E (hyper IgE) syndrome (HIES), also known as Job syndrome, consists of a heterogeneous group of complex hereditary combined B- and T-cell immune deficiency diseases characterized by recurrent Staphylococcus aureus chest infections, characteristic coarse facial appearance and ...
Article
Thalassemia
Thalassemia is an autosomal recessive hemoglobinopathy first described in the Mediterranean region. The genetic defect causes a reduction in the rate of globin chain synthesis which causes the formation of abnormal hemoglobin molecules. The resultant microcytic anemia is the characteristic prese...
Article
Fanconi anemia
Fanconi anemia is a rare disorder characterized by progressive bone marrow failure, various congenital abnormalities, and predisposition to malignancies (often acute myeloid leukemia). Bone marrow failure usually results in decreased production of all blood cells. It is considered the commonest ...