Thrombophilia Disease

About Gene:

Thrombophilia is a blood disorder that increases the likelihood of thrombus ( blood clot in the vein or artery). Thrombophilia may be congenital or acquired. Congenital thrombophilia of results due to overactivity of coagulation factors.

Number of Patients: 2

Disease Causing Genes:

MTHFR PROC PROS1 F2 F5 F8 PRKN F13A1 F9 ACE SERPINE1 NOS3 JAK2 HLA-B HMGB1 GSTP1 HABP2 HFE AGT HRG SLC8A1 SERPINC1 ADAMTS13 HLA-DQA1 ATP1B1 ANXA2 CHD1L PLG THADA THBD ANXA5 FGA FGG PLAT TFPI ZBTB20 PAPPA CPB2 EDIL3 APOH UBE2O RRAS2 F11 CD55 CD46 NPAS3 ZNF521 BUD13 CGB3 COL4A3 CAP2 HLA-DRB4 MRPL37 NOSTRIN FMO5 PROZ NUDT12 SH3YL1 ST6GALNAC3 CDH18 SERPINA10 MAST2 SERPINE3 LINC00970 HNRNPA1P57 MIR5693

Sign and Symptoms:

  1. Edema
  2. Cynosis
  3. Hyperhomocysteinemia
  4. Spontaneous Venous thromboembolism (VTE)
  5. recurrent superficial thrombophlebitis
  6. Fetal death after 20th week
  7. severe pre-eclampsia
  8. Childhood venous thromboembolism (VTE)

Diagnosis:

(1) Physical examination (2) CT angiography (3) Biochemical tests (4) Chest radiography (5) Echocardiography (6) Blood coagulation test

Preventions:

Genetic screening

Treatment:

Symptomatic treatment includes : - Heparin and warfarin therapy -