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Volume 1
Journal of Blood Disorders and Treatment
World Hematology 2018
October 22-23, 2018
October 22-23, 2018 Warsaw, Poland
10
th
World
Hematology and Oncology Congress
J Blood Disord Treat 2018, Volume 1
Screening for 3.7 and 4.2 deletion mutations in Sudanese patients suspected with alpha thalassemia
Hussam Ali Osman
Ahfad University for Women, Sudan
Background & Aim:
Alpha-thalassemia is the genetic disorders that have high prevalence in human population around all over the
world, characterized by microcytic and hypochromic anemia. The carriers for the disease present with a mild anemia and like these
patients in the rural medical centres especially in Sudan can be miss diagnosed as iron deficiency anemia, because of low facilities to
do further investigations for differentiation, so those patients could take iron therapy without response which exposes them to the risk
of hemochromatosis. The disease was not known in Sudanese and there were no published data. The 3.7 and 4.2 alpha gene deletion
mutations are the most common types of the alpha thalassemia mutations in West Africa. This study aimed to screen the participant
samples for the 3.7 and 4.2 deletion mutations at the molecular level and to correlate the findings with the CBC parameters in order
to find out indicative criteria in routine hematological parameters that can help in diagnosis of alpha thalassemia in Sudanese patients
which should be confirmed later by genetic investigations.
Method:
This is a cross sectional study targeted 98 patients of highly suspected to have alpha thalassemia based on the microcytosis
and hypochromasia of their RBCs, no past history of malaria (Plasmodium falciparum infection), normal serum ferritin level and
free of any chronic diseases were selected to be screen for the 3.7 and 4.2 alpha gene deletion mutations by single tube multiplex
GAP-PCR.
Result:
The revealed of these 98 patients 7 were carriers for the 3.7 deletion mutation in the alpha globin genes and only one patient
was 3.7 homozygous deletion mutation and all samples were negative for the 4.2 deletion mutation. The study revealed the 3.7
deletion mutation was found in Sudanese tribes originated from West Africa which are Four, Hawsa and Rezagat Tribes. The results
showed the carrier patients of the 3.7 deletion mutation RBCs and HCT were significantly increased P-value <0.05, the RBCs were
7.23±0.78×1012/L in the adult male and 7.21±0.67×1012/L in adult female while in the children were 5.07±0.87×1012/L. The
MCV and MCH were clearly decreased, but the MCHC slightly decreased. The Hb level revealed mild decrease without statistical
significance P-value >0.05 in the adult males were 11.7±0.57 g/dl and 11.25±0.64 g/dl while in the children were 11.6±2.95 g/dl. The
ferritin level was normal and the RDW CV clearly increased. The quantitative Hb electrophoresis was normal in addition to the
presence of many target cells in peripheral picture and no one of these carriers presence with clinical manifestations indicating for
anemia, but the homozygous 3.7 deletion mutation patient was anemic and his basic hematological parameters were as follows RBCs
1.38×1012/L, Hb 4.99 g/dl, HCT 11%, MCV 79.7 fl, MCH 35.5 pg, MCHC 44.5 g/dl, RDWCV 17.7% and the ferritin level were 1,807
mg/dl and this elevation due to the blood transfusion.
Conclusion:
The study confirmed the presence of the alpha thalassemia in Sudanese population for the type 3.7 deletion mutation in
the tribes that belong to the western reside of the Sudan and which is basically originated from the West Africa where the disease was
already known and this transmission due to the migration.
hussomco@gmail.com