Thalassemia

Watchlist

(log in to enable)

Retrieved

2022-04-26

Source

GARD

Trials

—

Genes

PPP1R15A, HBA2, HBG2, HBA1, HBB, HBD, HBG1, HAMP, HBFQTL2, AHSP, PMCH, SEA, HFE, G6PD, GDF15, EPO, VDR, KLF1, HBZ, BRD4, LNPEP, SERPINB6, SORBS1, GH1, CAP1, HACD1, RN7SL263P, TMPRSS6, CTAA1, IL6

PPP1R15A, HBA2, HBG2, HBA1, HBB, HBD, HBG1, HAMP, HBFQTL2, AHSP, PMCH, SEA, HFE, G6PD, GDF15, EPO, VDR, KLF1, HBZ, BRD4, LNPEP, SERPINB6, SORBS1, GH1, CAP1, HACD1, RN7SL263P, TMPRSS6, CTAA1, IL6, HBS1L, UGT1A1, HP, CSF3, IFNL3, TFRC, TNFRSF11B, SLC4A1, BCL11A, SERPINA1, GATA1, ITGB1, FXN, SCT, FAS, LINC01193, NPRL3, LILRA5, SLC40A1, YY1, VCAM1, TRV-AAC1-4, SOD1, MIR144, HBD, RAB4B-EGLN2, RHCE, TNF, PROCR, NOG, UGT1A7, DLL1, HPGDS, KRT20, NAAA, CHMP2B, UGT1A10, CADM1, UGT1A8, RAD21, PRG4, UGT1A6, UGT1A4, CD177, KIDINS220, SEPTIN9, EGLN2, EGLN3, ZFPM1, UPF1, ABO, PTH, CD34, F2, PHC1, DNTT, DMRT1, DLX4, CYP3A4, CYP2E1, CTLA4, CST3, CRP, CPB2, TNFRSF8, GABPA, CD28, MS4A1, CD1C, CD1B, RUNX1, B2M, ATRX, SERPINC1, APOE, APEX1, AFP, FN1, GCG, PSMB6, ITGA2B, PROS1, PGD, PDR, PC, SLC11A2, ACVR2B, MYH9, MYB, CD46, EPCAM, JAK2, IL3, GPT, IGHG3, IGF1, IFNG, IFNA2, HPX, HPFH2, HMGB1, HLA-DRB1, HLA-B, HLA-A, GSR, NFE2L2

Drugs

—

Interested in hearing about new therapies?

Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. There are two main types of thalassemia, http://rarediseases.info.nih.gov/gard/621/alpha-thalassemia/resources/1" target="_blank">alpha thalassemia and http://rarediseases.info.nih.gov/gard/871/beta-thalassemia/resources/1" target="_blank">beta thalassemia. Signs and symptoms vary but may include mild to severe anemia, paleness, http://www.nlm.nih.gov/medlineplus/ency/article/003088.htm" target="_blank">fatigue, yellow discoloration of skin (jaundice), and bone problems. Beta thalassemia is caused by changes (mutations) in the http://ghr.nlm.nih.gov/gene/HBB" target="_blank">HBB gene while alpha thalassemia is caused by mutations in the http://ghr.nlm.nih.gov/gene/HBA1" target="_blank">HBA1 and/or http://ghr.nlm.nih.gov/gene/HBA2" target="_blank">HBA2 genes. Both are inherited in an autosomal recessive manner. Treatment depends on the type and severity of the condition but may include http://www.nlm.nih.gov/medlineplus/ency/patientinstructions/000431.htm" target="_blank">blood transfusions and/or http://www.nlm.nih.gov/medlineplus/folicacid.html" target="_blank">folic acid supplements.