Phenotypic and molecular genetic analysis of Pyruvate Kinase deficiency in a Tunisian family

Jaouani Mouna (1) , Hamdi Nadia (1) , Chaouch Leila (1) , Kalai Miniar (1) , Mellouli Fethi (2) , Darragi Imen (1) , Boudriga Imen (1) , Chaouachi Dorra (1) , Bejaoui Mohamed (2) , Abbes Salem (1)

1 LR11IPT07 - Laboratoire d'hématologie moléculaire et cellulaire
2 CNGMO - Centre National de Greffe de la Moëlle osseuse Tunis

Pyruvate Kinase (PK) deficiency is the most frequent red cell enzymatic defect responsible for hereditary non-spherocytic hemolytic anemia. The disease has been studied in several ethnic groups. However, it is yet an unknown pathology in Tunisia. We report here, the phenotypic and molecular investigation of PK deficiency in a Tunisian family. This study was carried out on two Tunisian brothers and members of their family. Hematolog-ical, biochemical analysis and erythrocyte PK activity were performed. The molecular characterization was carried out by gene sequencing technique. The first patient died few hours after birth by hydrops fetalis, the second one presented with neonatal jaundice and severe anemia necessitating urgent blood transfusion. This severe clinical picture is the result of a homozygous mutation of PKLR gene at exon 8 (c.1079G>A; p.Cys360Tyr). Certainly, this research allowed us to correlate the clinical phenotype severity with the identified mutation. Moreover, this will help in understanding the etiology of unknown anemia in our country. Ó 2015 The Authors. Production and hosting by Elsevier B.V. on behalf of Ain Shams University. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

Mots clés: Hemolytic anemia; Phenotypic and molecular investigation; Pyruvate Kinase deficiency; Hydrops fetalis; PKLR mutation

Domaines: Sciences du Vivant [q-bio]

Jaouani Mouna, Hamdi Nadia, Chaouch Leila, Kalai Miniar, Mellouli Fethi, et al.. Phenotypic and molecular genetic analysis of Pyruvate Kinase deficiency in a Tunisian family. Egyptian Journal of Medical Human Genetics, 2016, 17 (3), pp.265-270. ⟨10.1016/j.ejmhg.2015.09.001⟩. ⟨pasteur-02012018⟩