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Sickle Cell Disease (most common inherited blood disorder (80,000…
Sickle Cell Disease
most common inherited blood disorder
80,000 Americans
most prevalent among African Americans
1 in 12 African American carriers
1 in 100 hispanic carriers
mutation in hemoglobin
Beta gene found on chromosome 11
abnormal molecules become stiff and pile up causing blockages
damaging vital organs and tissues
block flow of blood through vessels
lung tissue damage
causing chest syndrome
pain episodes
stroke
priapism
damage to spleen
kidneys
liver
Treatment
until recently not expected to survive childhood
preventive drug treatment
improved medical care
antibiotics
blood transfusions
hydroxyurea
bone marrow transplant
only cure
18% healthy sibling match
gene therapy
aggressive research
extend life expectancy beyond 50 years
Ways to Test
blood test- hemoglobin S
amniocentesis-detection in unborn
pre-implantation genetic diagnosis
PGD- test embryos for defective gene