Role of Alpha Hemoglobin Stabilizing Protein Expression in Beta Thalassemia Patients | ||||
| The Medical Journal of Cairo University | ||||
| Article 112, Volume 86, December, December 2018, Page 4279-4288 PDF (1.18 MB) | ||||
| Document Type: Original Article | ||||
| DOI: 10.21608/mjcu.2018.62815 | ||||
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| Authors | ||||
| IMAN A. AHMEDY, M.D.; SAMIA H. KANDEL, M.D.; SAFAA I. TAYEL, M.D.; MAHMOUD A. EL-HAWY, M.D. | ||||
| The Departments of Clinical Pathology*, Medical Biochemistry & Molecular Biology** and Pediatrics***, Faculty of Medicine, Menoufia University, Menoufia, Egypt | ||||
| Abstract | ||||
| Abstract Background: Beta (b)-Thalassemia is an autosomal reces-sive inherited disease causing variable degrees of anemia. The molecular defects are owing to point mutations or small deletions leading to diminution or absence of b-globin chain synthesis. The unmatched a-Hb is destructive to itself and other cellular components, resulting in ineffective erythropoi-esis and hemolysis. Alpha-Hemoglobin Stabilizing Protein (AHSP) is a scavenger protein of erythroid that fastly and reversibly attach the a subunit of hemoglobin molecule preventing its precipitation and subsequent hemolysis. Aim of Work: Is to assess AHSP gene expression in thalassemia major and intermedia and its relation to clinical features, laboratory investigations and to determine its role on the severity of thalassemia. Subjects and Methods: This case-control study is consisted of 120 studied subjects categorized into 40 thalassemia major patients, 40 thalassemia intermedia patients and 40 age healthy individuals as a control group. All subjects underwent the following; history, clinical picture, complete blood picture and Hb electrophoresis, serum ferritin and measurement of AHSP, alpha globin and beta globin genes expression by real time PCR. Results: AHSP gene in thal. intermedia group was higher than both thal. major (p<0.001). Beside thal. intermedia group had higher a globin/AHSP ratio versus thal. major group (p=0.011). b globin/AHSP ratio was not significant between both thal. groups. AHSP in thal.major group correlated with a globin and b globin expression and negatively correlated with organomegally, ferritin and no. of blood transfusion. Whereas in thal. intermedia group, was positively correlated with Hb, HCT, MCV, MCH, a globin gene expression, b globin gene expression and b globin/a globin genes ratio. Conclusion: AHSP expression was higher in thalassemia intermedia group than thalassemia major group. Consequently, AHSP can be considered genetic modifier in b thalassemia. | ||||
| Keywords | ||||
| AHSP – Thalassemia intermedia – Thalassemia major – Flowcytometry | ||||
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