21 genes: RPS19, RPL5, RPS26, RPL11, RPL35A, RPS10, RPS17, RPS24, GATA1, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPS7, RPS15A, RPS27, RPS28, RPS29, TSR2 Also known as: Congenital erythroid hypoplastic...
WAS and WIPF1 genes Also known as: Wiskott-Aldrich syndrome 1 (WAS1); Aldrich syndrome; Eczema-thrombocytopenia-immunodeficiency syndrome; Immunodeficiency 2 Includes: – OMIM#301000 https://omim.org/entry/301000 – OMIM#614493 https://omim.org/entry/614493 1. The disease: A primary...
FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANG, FANCI, ERCC4, FANCL, MAD2L2, UBE2T, SLX4 genes Also known as: Fanconi pancytopenia Includes: – OMIM#227650 https://omim.org/entry/227650 – OMIM#300514 https://omim.org/entry/300514 – OMIM#227645 https://omim.org/entry/227645...
F9 gene OMIM#306900 https://omim.org/entry/306900 Also known as: Factor IX deficiency 1. The disease: A rare hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency. 2....
F8 gene OMIM#306700 https://omim.org/entry/306700 Also known as: Factor VIII deficiency 1. The disease: A rare genetic haematological disorder characterized by spontaneous or prolonged haemorrhages due to factor VIII deficiency....
G6PD gene Also known as G6PD deficiency. OMIM#300908 https://omim.org/entry/300908 1. The disease: Glucose-6-phosphate dehydrogenase deficiency (G6PD) is a hereditary abnormality involving the activity of a red blood cell enzyme....
HBA1 and HBA2 genes OMIM#604131 https://omim.org/entry/604131 1. The disease: A rare inherited hemoglobinopathy characterized by impaired synthesis of two to all four alpha-globin chains leading to a variable clinical...
HBB, HBA1 and HBA2 genes Includes: – C cell disease – OMIM#603903 https://omim.org/entry/603903 – Beta-Thalassemia – OMIM#613985 https://omim.org/entry/613985 1. The disease The term sickle cell disease (SCD) encompasses an...