Thalassemia Disease

About Gene:

Thalassemia is autosomal recessive, which means both the parents must be affected with or carriers for the disease to transfer it to the next generation. It is caused by mutations or deletions of the Hb genes, resulting in underproduction or absence of alpha or beta chains. There are over 200 mutations identified as the culprits for causing thalassemia. Alpha thalassemia is caused by deletions of alpha-globin genes, and beta thalassemia are caused by a point mutation in splice site and promoter regions of the beta-globin gene on chromosome

Number of Patients: 1

Disease Causing Genes:

HBB-LCR HBHR GSTT1 HBB HBA1 BCL11A ATRX TP53 HBA2 APOE TNF MTHFR HBG1 TGFB1 HFE VDR HBG2 MYB GATA1 HBD TERT CRP ADIPOQ GSTM1 HLA-DRB1 IGF1 JAK2 PPARG HAMP PON1 NFE2L2 CTLA4 HBE1 TNFRSF11B NPPB LCN2 UGT1A1 HLA-DQB1 GDF15 HLA-G TNFSF11 APOA1 CYP3A4 INS EDN1 COL1A1 APOB MIR155 CST3 CHI3L1 IFNL3 FGF23 RETN G6PD FOXO3 CYP2E1 MALAT1 NAMPT DNMT1 FGFR3 ADAMTS13 DKK1 HBS1L HP KL KLF4 TNFSF13B EPO TFRC TRPV1 B2M CYP1A2 MIR15A GH1 FCGR3A HAVCR2 PLA2G7 CAT MIR210 PROC SLC4A1 TNNI3 KLF1 XPO1 APOL1 CDKN2B-AS1 CD38 CD55 ABCC2 CD24 HLA-E GSN SFTPD PRMT5 CR1 MIR150 HBBP1 PROS1 MIR451A TNFRSF11A MIR30A CD59 DAXX FTL PROCR SLC40A1 ESM1 SPI1 MAP3K5 CP MIR16-1 TPH1 TPO CADM1 SMPD1 FTH1 MIR144 KIR3DL1 GSTA1 HOXA9 SPTA1 CHIT1 CD19 LAG3 SELENOP BACH1 MIR320A TMPRSS6 AHSP PEPD ASS1 EIF5A CKM AIMP1 ARID1B TFR2 MIR326 MIR486-1 NOG SOX6 MACROH2A1 SPTBN1 KLRC1 MIAT KLF10 HOXA5 GOT1 ANK2 PALLD CEBPE JAZF1 CAP1 DLX4 NFE2 CD1C CD1B LOC109951029 LYAR ZHX2 SOX8 EIF2AK1 HBFQTL4 TSPYL1 ZFPM1 TWSG1 LOC106804613 LOC106804612 LARP1B HBQ1 ZNF460 MIR609

Sign and Symptoms:

  1. Development delay
  2. Bone deformities
  3. Abdominal Pain
  4. Fatigue
  5. Breathing difficulties

Diagnosis:

(1) Hemoglobin electrophoresis (2) Complete blood count analysis (3) Bilirubin analysis

Preventions:

1. There is no way to prevent the condition since it is inherited 2.Eat a healthy ,well balanced diet 3.Limit intake of iron rich food 4.Certain lifestyle changes could help manage the condition and prevent complications 5.Maintain regular exercise regimen ,as suggested by your doctor

Treatment:

1.Frequent blood transfusions 2.Chelation therapy 3.Stem cell transplant