δ0-Thalassemia in cis of ßKnossos globin gene: first homozygous description in thalassemia intermedia Libyans and first combination with codon 39 (C→T) in thalassemia intermedia Tunisian patients.

BACKGROUND: ß-Thalassemia is the most common disease among hemoglobinopathies in North African and Arab populations. In the present study we report the first description of the ß-Knossos codon27 (G→T) (ßKnossos) allele in cis with the δ059 (-A) mutation in thalassemia intermedia patients in Tunisia and Libya. METHODS: This identification was carried out by sequencing analysis of the whole coding regions of the δ- and ß-globin genes. RESULTS: We noted that heterozygous inheritance of the ßKnossos mutation results in a mild ß-thalassemia phenotype with a low level of HbA2 while homozygous leads to intermediate ß-thalassemia with an atypical high performance liquid chromatogram showing a complete absence of HbA2 and HbF. Compound heterozygosity of the ßKnossos with ß0 codon39 (C→T) is identified in a Tunisian proband for the first time and gives rise to a mild phenotype. In both families, the δ0 codon59 (-A) and the ßKnossos alleles were found to be associated with a single Mediterranean ß-haplotype I similar to that observed in previous reports from Algeria, Egypt, Cyprus, and Turkey. CONCLUSIONS: The chromosome supporting the ßKnossos and the δ0 codon59 (-A) alleles seems to be of a single Mediterranean origin. Premarital screening studies in families in which only one of the parents has typical aspects of ß-thalassemia trait and the other has a normal HbA2 level associated with abnormal red cell indices becomes a necessity to avoid missing thalassemia carriers.

[Hyperlipidaemia associated to inaugurated diabetic ketoacidosis]. / Hyperlipemie associee a une acidocetose diabetique inaugurale.

Severe hyperlipidaemia in presenting diabetic ketoacidosis was rarely reported in child. We report the case of a three-year-old girl with presenting diabetic ketoacidosis. Family history was negative for hyperlipidaemia. Serum was creamy pink in gross appearance. The child has a hyperlipidaemia with serum triglycerides 18.5 mmol/l and serum cholesterol 13.8 mmol/l. The hyperlipidaemia disappeared with insulin therapy within seven days. We study the clinical, laboratory, pathogenic and evolution features of this uncommon trouble in diabetic children.