Frequency and spectrum of hemochromatosis mutations in Tunisia

Amine Zorai; Cornelis Harteveld; Radhouane Rachdi; Koussay Dellagi; Salem Abbes; Paola Delbini; Piero Giordano

Frequency and spectrum of hemochromatosis mutations in Tunisia

Amine Zorai ¹ Cornelis Harteveld ² Radhouane Rachdi ³ Koussay Dellagi ¹ Salem Abbes ¹ Paola Delbini ⁴ Piero Giordano ^{2, *}

* Corresponding author

1 LR11IPT07 - Laboratoire d'hématologie moléculaire et cellulaire

2 Leiden University Medical Center (LUMC)

3 Military Hospital of Tunis

4 Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico

Abstract : The occurrence of the C282Y and H63D mutations of the HFE gene, responsible for toxic iron overload in the liver (hereditary hemochromatosis), was still unknown in Tunisia. We report the screening of 194 chromosomes from 97 randomly collected cord blood samples. The mutations were analyzed by PCR followed by DNA sequencing. The mild H63D and the severe C282Y mutations were found in 17.5+/-5.34% and 0.5+/-0.97% of the alleles, respectively. The allele frequency of the IVS 2+4 T --> C polymorphism is high (46.4+/-7.01%) in this population. Risk for homozygosity for the severe C282Y mutation is present in the Tunisian population at a low theoretical incidence. However, due to the relatively high rate of consanguinity in the country, liver pathology due to HH is not to be disregarded.

Keywords : hemochromatosis mutations Tunisia C282Y H63D

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Human health and pathology / Hematology

Complete list of metadatas

https://hal-riip.archives-ouvertes.fr/pasteur-02050721
Contributor : Abdelhakim Ben Hassine <>
Submitted on : Wednesday, February 27, 2019 - 12:30:38 PM
Last modification on : Tuesday, June 4, 2019 - 5:56:41 PM

Frequency and spectrum of hemochromatosis mutations in Tunisia

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Frequency and spectrum of hemochromatosis mutations in Tunisia

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