Transfusion strategy for weak D Type 4.0 based on RHD alleles and RH haplotypes in Tunisia.

Background: With more than 460 RHD alleles, this gene is the most complex and polymorphic among all blood group systems. The Tunisian population has the largest known prevalence of weak D Type 4.0 alleles, occurring in one of 105 RH haplotypes.

RHD genotyping and its implication in transfusion practice.

Background: The limitations of serology can be overcome by molecular typing. In order to evaluate the contribution of RH systematic genotyping and its implication in transfusion practice, a genotyping of D- blood donors was initiated.

Methods: Blood samples were collected from 400 unrelated D- individuals.

Weak D in the Tunisian population.

Background: More than 90 weak D types have been discovered to date. As there are no published data on the frequencies of weak D types in the Tunisian population, the aim of this study was to determine the composition of weak D alleles in our population.

Material And Methods: Blood samples from 1777 D+ and 223 D- blood donors were tested for markers 809G, 1154C, 8G, 602G, 667G, 446A, and 885T relative to translation start codon by polymerase chain reaction with sequence-specific primers to estimate the frequencies of weak D type 1, weak D type 2, weak D type 3, weak D type 4, weak D type 5 and weak D type 11 in our population.

(C)ce(s) haplotype screening in Tunisian blood donors.

Background: The (C)ce(s) haplotype, mainly found in black individuals, contains two altered genes: a hybrid RHD-CE-D(s) gene segregated with a ce(s) allele of RHCE with two single nucleotide polymorphisms, c. 733C>G (p.Leu245Val) in exon 5 and c.

Simple and fast quantification of nitisone (NTBC) using liquid chromatography-tandem mass spectrometry method in plasma of tyrosinemia type 1 patients.

Tyrosinemia type 1, which is caused by a deficiency in fumarylacetoacetate hydrolase, is successfully treatable with nitisone (NTBC), an inhibitor of 4-hydroxyphenyl pyruvate dioxygenase. The recommended average dose of NTBC is 1 mg/kg per day. A rapid liquid chromatography (LC) coupled with negative electrospray ionization tandem mass spectrometry method was developed and validated for the quantification of NTBC in heparinized human plasma.