Hemophilia B is inherited as x-linked recessive disorder, carried by females, where males are affected. Rare cases of females affected with hemophilia B are known. This is also known as factor IX (FIX) deficiency, or "Christmas disease", originally named after Stephen Christmas; the first patient was described with this disease in 1952. It is characterized by spontaneous or prolonged hemorrages due to factor IX deficiency. Factor IX mutations have not been previously reported in Algerian patients. To understand the molecular basis of hemophilia B in Algeria, polymerase chain reaction (PCR) and direct sequencing have been applied to be the important regions of the factor IX gene from 11 patients; we identified 2 point mutations. Mutations identified in our patients was linked with disease severity. Complications are problems that develop during treatment of the disease. Inhibitor (alloantibodies to exogenous factor XI) development is currently the most significant treatment complication. In this study, we evaluated the relationship between inhibitor development and FIX gene mutation types. In summary, our preliminary results will be used to build an Algerian mutation database which would facilitate genetic counseling.

No abstract

This study was planned to determine the frequency of β-thalassemia mutations in Batna region (Northeast Algeria). Nineteen blood samples of clinically thalassemic children patients were collected from Department of Pediatrics, University Hospital of Batna. We carried out the molecular genetics of beta globin gene by the method of minisequencing using Snapshot™ kit (Applied Biosystems) in search of the four most common HBB genetic variants including three β-thalassemia mutations: codon 39(C&gt;T) (<em>HBB</em>: c.118C&gt;T), IVSI-110(G&gt;A) (<em>HBB</em>: c.93-21G&gt;A), and IVSI-1-2(T&gt;G) (<em>HBB</em>: c.92+2T&gt;G), as well as the hemoglobin S variant (<em>HBB</em>: c.20A&gt;T). We used direct DNA sequencing to detect the rare mutations of beta-globin gene. We have revealed the presence of four different <em>β</em>-globin gene mutations responsible for <em>β</em>-thalassemia in Batna region. According to our results, the nonsense mutation at codon 39 (C&gt;T) is the most frequent mutation type in our province, the same as other geographical regions of Algeria. It is followed by codon 54(-T), detected in a second Algerian family (the proband was homozygote), and the first association of Hb Knossos: codon 27 (G&gt;T) allele with codon 39 (C&gt;T) in the Algerian population. Here we reportws also the association of codon 39(C&gt;T) with IVS-I-110 (G&gt;A). Our preliminary results show the predominance of codon 39 (c&gt;t) mutation of <em>HBB</em> gene in Batna region.