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Volume 05 Neonatal and Pediatric Medicine
ISSN: 2572-4983 World Pediatrics 2019
December 04-05, 2019
December 04-05, 2019 | Barcelona, Spain
32nd World Pediatrics Conference
The first association of HBKnossos: (HBB: c.82G> T) with (HBB: c.118C˃ T) mutation causes thalassemia
homozygous in Algerian children
Belhadi Kamilia1, Bendaoud Fadhila1, Benhouda Afaf1, Djaara Hayet1, Gribaa Moez2 and Ben Charfeddine Ilhem2
1University of Batna, Algeria
2Farhat Hached University, Tunisia
Beta-thalassemia is the most common disease among hemoglobinopathies in Algeria. Mutations found in Algerian
beta-thalassemia patients constitute a heterogeneous group, consisting mostly of point mutations. Only in very rare
cases did deletions or insertions cause affected or carrier phenotypes. Hb Knossos (HBB: c.82G> T) is a rare variant. In this
study, we aimed to investigate the effect of compound heterozygosis for Hb Knossos (HBB: c.82G> T) and (HBB: c.118C>
T). To our knowledge, this is the first report of such a combination related with beta-thalassemia major phenotype in a
Algerian family, we used the minisequencing assay as a rapid screening procedure to identify most common HBB genetic
variants and direct DNA sequencing to detect the rare mutations of HBB gene. Heterozygous inheritance of the mutation
results in severe beta-thalassemia phenotype. The proband was a 13-year-old boy when first studied. He was referred
because of severe anemia. Hematological analysis of the reveals Hb 7.2 g/dl withmicrocytosis of 71.1fl, hypochromia 25pg
and the number of red blood cells is 2.9, 106/mm³. In addition, a significantly secondary thrombocytosis and leukocytosis
were reported in patient. Electrophoresis of hemoglobin in an alkaline medium shows Hb A2 = 4%HbF = 65% and blood
smear confirms microcytosis hypochromia and showing the presence of many dacryocyte with hyper eosinophilia. The
combination of these mutations Hb Knossos (HBB: c.82G> T) and (HBB: c.118C> T) causes the beta-thalassemia major
phenotype and this is important for genetic counseling.
Neonat Pediatr Med 2019, Volume: 05