Abstract: Sickle cell anemia is a recessive genetic disease
caused by the presence in the red blood cell, of abnormal hemoglobin
called hemoglobin S. It results from the replacement in the beta chain
of the acid glutamic acid by valin at position 6. Topics may be
homozygous (SS) or heterozygous (AS) most often
asymptomatic. Other mutations result in compound heterozygous:
- Synthesis of hemoglobin C mutation in the sixth leucin codon
(heterozygous SC);
- ß-thalassemia (heterozygous S-ß thalassemia).
SS homozygous, heterozygous SC and S- ß -thalassemia are grouped
under the major sickle cell syndromes.
To make a laboratory diagnosis of hemoglobinopathies in a
portion of the population in region of Batna, our study was
conducted on 115 patients with suspected sickle cell anemia, all cases
have benefited from hematological tests as blood count (count RBC,
calculated erythrocyte indices, MCV and MCHC, measuring the
hemoglobin concentration) and a biochemical test in this case
electrophoresis CAPILLARYS HEMOGLOBIN (E).
The results showed:
27 cases of sickle cell anemia were found on 115 suspected cases,
73,03% homozygous sickle cell disease and 59,25% sickle cell trait.
Finally, the double heterozygous S/C, represent the incidence rate of
3, 70%.
Abstract: Von Willebrand-s disease is the most common
inherited bleeding disorder in humans, it
caused by qualitative abnormalities of the von Willebrand factor
(vWF). Our objective is to determine the prevalence of this disease at
part of the Algerian population in the East and the South by a
biological diagnosis based on specific biological tests (automated
platelet count, the bleeding time (TS), the time of cephalin + activator
(TCA), measure of the prothrombin rate (TP), vWF rate and factor
VIII rate, Molecular electrophoresis of vWF multimers in agarose gel
in the presence of SDS). Four patients of type III or severe
Willebrand-s disease were found on 200 suspect cases. All cases are
showed a deficit in vWF rate (< 5%), and factor VIII (P