文档介绍：Molecular Disease
Medical ics
1902, Garrod AE
the incidence of alkaptonuria:
a study in clinical individuality
1948, Horlein H & Weber G
1949, Pauling L
Sickle cell anemia, a molecular disease. Science. 110: 543-548, 1949.
Molecular Disease
A disease in which the manifestations are due to alterations in protein structure and quantity.
Structure of Hemoglobin
1 2 1
5‘ 3’
16pter-
1 31 32 99 100 141
Hemoglobin Alpha Chain
ε G Aψ1 δβ
5’ 3’
Hemoglobin Beta Chain
1 30 31 104 105 146
0 2 4 6 8 Birth 2 4 6 8
Months
100
80
60
40
20
Percentage of
globin synthesis(%)
Development of Hemoglobin
δ
ζ
ε
α
γ
β
α
Developmental
Stage
Hemoglobin
position
Embryo
Hb Gower1
2 2
Hb Gower2
2 2
Hb Portland
2G 2 2A 2
Fetus
Hb F
2G 2 2A 2
Adult
Hb A
22
Hb A2
22
Development of Hemoglobin
Hemoglobinopathy
Abnormal hemoglobin is production of an abnormal globin chain.
Thalassemia is reduced production of selected globin chains.
Hereditary disorders that can result in moderate to severe anemia.