2. inherited autosomal recessive blood
disorders.
genetic defect: mutation or deletion.
results in reduced synthesis of one of
the globin chains.
thus causing anemia
3.
4. Mediterranean origin: Arabs
especially Palestinians, Asians.
The Maldives,18% of the population.
16% in people
from Cyprus, 1% in Thailand, and 3-
8% in
Bangladesh, China, India, Malaysia
and Pakistan.
Latin America and Mediterranean
countries.
5.
6. 1. Alpha (α) thalassemias
The α thalassemias involve the genes
HBA1 and HBA2,inherited
connected to the deletion of the 16p
chromosome.
decreased alpha-globin
production, resulting in an excess of β
chains in adults and excess γ chains in
newborns
7. a1 a2 a1 a2 Each copy of
chromosome16
a1 a2 a1 a2 has tow adjacent
normal gene for a-globin
Silent carrier chains
a1 a2 a1 a2
OR
a1 a2 a1 a2
a-thalassemia trait
(heterozygous form) Normal gen
Deleted gen
8. a1 a2 Hemoglobin H
a1 a2 disease(sever hemolytic
anemia
a1 a2
Hemoglobin Bart with
a1 a2 hydrops fetalis
9. 2. Beta (β) thalassemias
mutations in the HBB gene on
chromosome 11
The severity of the disease depends
on the nature of the mutation.
10. Each copy of chromosome11 has
only one gene for B-globin chains
B
normal
B
B B-thalassemia
B minor
B
B-thalassemia major
B
11. the autosomal recessive forms of the
disease, both parents must be carriers in
order for a child to be affected.
If both parents carry a hemoglobinopathy
trait, there is a 25% risk with each
pregnancy for an affected child.
17. Pallor accompanied
with the emergence
of bones of the
forehead and cheeks
and upper jaw of a
child with beta
thalassemia major
who Did not
organized in blood
transfusions
18. Weakness in the
structure with
swelling in the
abdomen
accompanied by
swelling in the liver
and spleen
19. blood transfusion regimen was the first
measure effective in prolonging life.
Medical therapy for beta thalassemia ,iron
chelation. Deferoxamine is the
intravenously or subcutaneously
administered.
thanks to Bone Marrow Transplantation
(BMT) from compatible donor
