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Summary

Summary Rodak's Hematology (MLHE); Thalassemia

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2016/2017 Written for academic year
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San Pedro College
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Hematology (MLHE)
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notes about thalassemia

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X. Hemoglobin O-Arab -occurs when aspargine is
replaced by 68th position of
-Glutamic acid is replaced by
the α chain
lysine at the 121st amino acid
of the β chain
- α2 68Asn -> Lys
β2
-α2 β2121Glu -> Lys
Multiple Amino Acid
Substitution
I. Hemoglobin C-Harlem
-also known as Hb C-
Georgetown

- β chain variant caused by:
 Valine substitution for
Glutamic at 6th position
 Asparagine substitution
for Aspartic acid at 73rd
position

-α2 β26Glu -> Val, 73Asp-
>Asn




ALPHA CHAIN
SUBSITUTION
I. Hb G Philadelphia

, HEMOGLOBINOPATHI VII. Hemoglobin D
ES (OUTLINE) -α2 β2121Glu -> Gln
SINGLE CHAIN IV. Hemoglobin C
SUNSTITUTION Disease
I. Hemoglobin S -α2 β26Glu -> Lys
-α2 β26Glu -> Val V. Hemoglobin C Trait
II. Hemoglobin AS α2 β2 α2 β26Glu -> Lys
-α2 β2 α2 β26Glu -> Val VI. Hemoglobin SC
III. Hb S THALASSEMIA Disease
-Hb S – B0 thalassemia -BOTH α2 β26Glu -> Val and α2
β26Glu -> Lys
-Hb S – B+ thalassemia
VII. Hemoglobin D
IV. Hemoglobin C
Disease -α2 β2121Glu -> Gln
-α2 β26Glu -> Lys VIII. Hemoglobin SD
V. Hemoglobin C Trait -α2 β26Glu -> Val and α2 β2121Glu
-> Gln
-α2 β2 α2 β2 6Glu -> Lys

IX. Hemoglobin E
IV. Hemoglobin C
Disease -Hb EE [homozygous]

-α2 β26Glu -> Lys -α2 β226Glu -> Lys
V. Hemoglobin C Trait -Hb AE [heterozygous]
α2 β2 α2 β26Glu -> Lys - α2 β1 α2 β226Glu -> Lys
VI. Hemoglobin SC X. Hemoglobin O-Arab
Disease -α2 β2121Glu -> Lys
-BOTH α2 β26Glu -> Val and α2
β26Glu -> Lys
Connected book
image
Larry Smith, Elaine Keohane, Phd, Mls Rodak\'s Hematology
Publisher: april 2015 ISBN: 9780323239066 Edition: 1

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