الفهرس 
CHRONIC HEMOLYTIC ANEMIAOnly 14 pages are availabe for public view
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Abstract
T
hromboemobolic events have been observed in chronic haemolytic anemia patients in different forms such as deep venous thrombosis, cerebral strock and pulmonary embolism.
The predisposition to form clots can arise from genetic factors, acquired changes in clotting mechanism, or more commonly an interaction between genetic and acquired factors.
The role of genetic thrombophilia in the development of both micro and macro vascular complication in patients with hemoglobinopathies (thalassemia and sickle cell disease)have been investigated with some studies negating its role while others to suggesting it.
The aim of this study is to determine the frequency of selected prothrombotic genetic mutation among a group of thalassemic patients and a group of sickle thalassemic patients and to assess whether co-inheritance had an impact on thrombotic manifestations.
The present cross sectional study was carried out on twenty one patients with median age 9 years, with either beta thalassemia (major or intermedia) or sickle cell anemia, following up in the Pediatric Hematology Clinic, Children Hospital, Ain Shams University.
All patients were subjected to detailed history taking, full clinical examination, laboratory investigation (CBC, mean Hb level per year, Serum ferritin level, PT level, PTT level, Hb electropharesis and PCR for genetic mutation)
Patients were divided into 3 groups according to the type of the disease: 9 thalassemia major patients, 6 thalassemia intermedia patients and 6 sickle cell anemia patients.
In conclusion, this study revealed the following results:
• There is no family history of thrombosis in any of the studied patients.
• There was high splenectomy rate in thalassemia major group and sickle thalasemia group compared with the thalasemia intermedia group (P<0.05).
• Although there was no statistical significant difference between groups as regards the weight, height (P>0.05), nearly all patients were considered short (height< -2SD).
• Patients with β-thalassemia major and sickle thalassemia showed higher incidence of FVL mutation than those with Thalassemia intermedia which was statistically insignificant.
• Cases with β-thalassemia major showed significantly higher rate of heterozygous (G/A) when compared to control P=0.03. There was no statistical significant difference between other groups and control as regards the distribution of factor V, II and MTHFR P>0.05
• Patient with β-thalassemia major showed significantly higher rate of inherited thrombophilia mutation than those with thalassemia intermedia (P=0.01) with an odds ratio of 2.7 (95%CI 0.84-8.5).
• There was no statistical significant difference between cases with β-thalassemia major and sickle thalassemia (P=0.23) and between sickle thalassemia and thalassemia intermedia (P=1.00) as regard to frequency of inherited thrombophilia mutation.
• Patients with mutations showed significant higher level of WBC and PT when compared to cases with no mutation P<0.05 mainly due to there is 6 mutated patients with HBV and HCV affection and one patient receive oral anticoagulant (marivan).