| dc.description.abstract | The human hemoglobins are proteins that are both studied and
known genet ically. The genet ic systems, which part icipate in the
human hemoglobin’s syntheses, are located in the 16 and 11
chromosomes. Each one of them has the groupings of alpha and beta
genes. Each one of these groupings has genes that act specifically in
the embryonic and fetal phases and soon after the birth.The group of
clinical symptoms and laboratory alterations result ing from
mutat ions that affected the quant itative synthesis in the product ion
of normal globins chains was named Thalassaemia. It const itutes a
heterogeneous group of genet ic diseases, which are characterized by
the lack or reduct ion of the hemoglobin production. It occurs an
imbalance between the alpha and beta globins because of the alpha
or beta globins decrease. The clinical manifestat ions can vary from
serious hereditary anemia incompat ible with life (e.g. major
thalassaemia) to the intermediary thalassaemia and even benign
forms pract ically without symptoms as, for example, the
heterozygous. However, it can be detected by laboratory exams. The
most serious symptomat ic forms are characterized by hemolyt ic
anemia and they cause weakness, jaundice, esplenomegaly,
erythroid hyperplasia of the bone medulla, hepatomegaly, retard of
the somat ic and sexual development and hypocromic forms. The
blood transfusions are necessary for the treatment of serious
thalassaemia, but they cause an excessive accumulat ion of iron in
the body due to periodic transfusions. So, it should be made the iron
break by a drug called deferoxamin (DFO). This drug reduces the
iron excess in the organism as well as the morbidity and mortality
of the pat ients. The distribut ion of thalassaemia in Brazil is related
to the races that compose our populat ion. | |
