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العنوان
Associations between HLA DQB1 alleles & β thalassemia major /
المؤلف
Mahmoud, Nada Osman Zaki.
هيئة الاعداد
باحث / ندي عثمان زكي محمود
مشرف / أمل محمود كمال الدين
مشرف / عماد علام عبدالنعيم
مشرف / مصطفي احمد السيد
الموضوع
Diagnosis, Laboratory.
تاريخ النشر
2020.
عدد الصفحات
97 p. :
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
الطب (متفرقات)
تاريخ الإجازة
1/1/2020
مكان الإجازة
جامعة المنيا - كلية الطب - الباثولوجيا الإكلينيكية
الفهرس
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Abstract

This study was conducted to know the associations of different HLA-DQB1 alleles with β thalassemia major & to correlate presence of different HLA-DQB1 alleles with clinical picture and complications.
The study included two groups:
group I included forty-five (45) children with previous history of beta thalassemia major they were 26 females and 19 males, with ages ranged from 1.5 to 15 years old.
group II forty-five (45) apparently healthy children, they were 16 males and 29 females, with matched age to group І patients.
Inclusion criteria:
1. Egyptian pediatric patients diagnosed as beta thalassemia major.
2. Multi- transfused for at least one year, once per month.
Exclusion criteria:
1. Patients with other hemoglobinopathies.
2. Patients who are not blood transfusion dependent.
The study was approved by the ethical committee of Faculty of Medicine, Minia University, Egypt.
All patients were subjected to the following:
Routine investigations:
1) Complete blood count was done on (CelltacES, Nihon Kohden, Germany), blood film and reticulocytic count.
• 2) Liver function tests (ALT, AST, serum total bilirubin, direct bilirubin& albumin) and renal function tests (blood urea and creatinine) were performed on by (FLEXOR Pro XL, ELI Tech, France).
3) High Pressure Liquid chromatography (HPLC) and Serum ferritin were taken from history.
Special investigations:
Identification of HLA DQB1 genotyping by Real time PCR
(The Kit were supplied by DNA-TECHNOLOGY (catalog no.334-1), Russia.)
Our Study results:
• The study demonstrates that, HLA DQB1 *0601 was significantly higher in thalassemic children when compared to normal controls P-value 0.034.
• HLA DQB1*03 was more in frequency in control group with (P value 0.031) which may be a preventive risk factor for β-thalassemia.
• HLA DQB1*04 & HLA DQB1*05 show nonsignificant increase in thalassemic children when compared with normal controls (P value 0.059&0.408 respectively).
• No significant difference was established between two groups in HLA DQB1*02.
• Significant correlation between frequency of HLADQB1 *0502/*0504 allele and Hb level in thalassemic group (P value 0.036).
• Significant correlation between frequency of HLADQB1 *0501 allele and reticulocytic count with (P value 0.021).
• Significant correlation between presence of *0601 allele and HbA1 with (P value 0.032) and with HbF with (P value 0.031).