Système RH : dépistage de D partiels avec RHD/RHCE gène hybride

Aim of the studyThe determination of the RhD phenotype is important in transfusion medicine. However, the complexity of the expression of the D antigen is the cause of the discrepancies observed between two serological determinations and the omission by serology of some variants that can be cause alloimmunization. Therefore, it is important to known in a population the RHD alleles responsible for partial D and weak D phenotype. The aim of the study was the screening of partial D with RHD/RHCE gene hybrid by PCR-multiplex.Materials and methodsOur study involved 308 blood donors from Tunisian Sahel (269 D positive and 39 D negative). We used the multiplex PCR assay to amplify specific exons of the RHD gene 3, 4, 5, 6, 7, 9 and 10. Further molecular investigations were carried to characterize the RHD variants that were detected by the multiplex.ResultsIn the 269 D positive samples, one case showed the absence of amplification of exons 4 and 5 of RHD gene. This variant was identified by PCR-SSP on weak D type 4. None of the RHD exons were amplified from DNA of 39 D negative samples in favor of a total deletion of the RHD gene.ConclusionWe have no found any partial D variant with RHD/RHCE gene hybrid. Results in D negative samples showed that RHD gene deletion is the most frequent mechanism of D negative phenotype in the Tunisian population.     

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family

Hereditary Spastic Paraplegias (HSP) encompass a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by insidiously progressive weakness and spasticity of the lower extremities. We describe a consanguineous Saudi family segregating a complicated form of HSP in an autosomal recessive pattern. The two affected siblings had early onset, cognitive, speech and motor involvement with spasticity of the lower extremities. Their upper extremities were mildly hypertonic. An intronic splice acceptor site mutation in ERLIN2 was found to be responsible for causing this disorder found in this family. ERLIN2 is a mediator of endoplasmic reticulum degradation pathway (ERAD) which helps to remove the aberrant proteins. Our results, in concurrence with previous studies suggest that alteration in ERLIN2 is one of the causes of complicated HSP, thereby increasing the spectrum of known mutations in SPG18.     

Profil clinico-biologique et immunohématologique des patients atteints de β-thalassémie en Tunisie : à propos de 26 cas

Aim of the studyTo study the clinical and biological profile of β-thalassemic patients in our region, reflecting the quality of their care.Patients and methodsA retrospective study (2010–2011) on 26 β-thalassemic patients followed in the pediatrics service at CHU Farhat Hached Sousse, Tunisia. Epidemiological, clinical and biological data were collected from medical records and transfusion files of patients. The transfusion protocol adopted was to maintain a hemoglobin level > 10 g/dL by regular transfusions every 3–4 weeks. Iron chelation therapy, in order to maintain serum ferritin < 1500 ng/mL, was introduced when serum ferritin exceeded 800–1000 ng/mL.ResultsThe mean age of patients at diagnosis was 15 months. The clinical impact of anemia had resulted in failure to thrive in 54% of patients and facial dysmorphism in 23%. The average transfusion requirement was estimated at 311.02 mL/kg/year with 6 cases of hyperconsumption. The immunohaematological monitoring showed the appearance of anti-RBC alloimmunization in one patient and 4 cases of autoimmunization. Poor adherence of chelation therapy was 62% and causing 5 cases of cardiac complications, 4 cases of liver injury and 14 cases of endocrine complications.ConclusionImproving the therapeutic care of β-thalassemic children requires better monitoring of transfusion recovery and improved adherence to chelation therapy.     

Hepatitis C virus antibodies in 34130 blood donors in Tunisian Sahel

Since January 6th 1994 to december 31 1997. We researched hepatitis C Virus antibodies by second and third generation ELISA in 34,130 bloods donors living in "Sahel Tunisien". 193 were positive (0.56%). Only 171 of them were secondary tested by immunoblot assay (anticore, anti NS5, anti NS3, anti NS4). Which was positive in 53 cases (30.9%); in determined (presence of only one antibody) in 78 cases (45.6%) and negative, in 40 cases (23.3%). There was a significant relation between a ratio over than 2.5 in ELISA and immunoblot positivity. Immune response to different hepatitis virus antigens were heterogeneous with predominant in determined profile. (78/171 cases). Most of donors of the last profile had either anti NS5 (32/78) or anti NS3 (33/78) and we excluded them even through usually negative in P.C.R and associated with a very low risk of contamination.     

Posttraumatic false aneurysm of the superficial temporal artery. Apropos of a case report and review of the medical literature

Traumatic false aneurysm of superficial temporal artery is infrequent. About 21 cases were published during these last fifty-three years (1932-1985) in medical literature. The authors report a case of traumatic false aneurysm in a 50 y. o. woman, having had a frontal trauma one month before. They discuss the physiopathologic mechanism of this rare lesion. False aneurysm is always secondary to an arterial wall rupture. This rupture may be complete in arterial wound or partial with disruption of intima and media in simple contusion. It depends not only on the nature and the intensity of the trauma but also on the particular topography of the artery which is prone to such a complication.