Page 331 - Clinical Hematology_ Theory _ Procedures ( PDFDrive )

CHAPTER 17 ■ Hemoglobinopathies and Thalassemias 315

m m . I m

% - BOX 17.2

m , m j ,

m . H , m

m m Examples of Selected Hemoglobinopathies

m z . ABNORMAL MOLECULAR STRUCTURE

D m H SS ( k )

m z . H SA ( k )

H m m m m - H C

. A x m % m m-

RATE OF SYNTHESIS

m m m z m . β T m

A m m α T m

, m - COMBINATION OF TWO MOLECULAR ALTERATIONS

m OR A MOLECULAR ABNORMALITY AND SYNTHESIS

.
DEFECT

Disease Versus Trait H S–H C
H S–β m
I m m ,

-

m . A m -

z m

z , m NOTE: This is a good time to review the de nitions of the Key

m . I SCD, m Terms in the Glossary and ash cards on . Also,

m . A - a good time to complete Review Questions related to the

z m m m . A preceding content.

m

C .
SICKLE CELL DISEASE

Abnorm al Hem oglobin Molecules
S k (SCD) m m
A m m m m , x m , m ,

m m j :
k m .

. A m m m - T z

m m , H S, m , m -
x m , SCD k -

. A m m .
m m - SCD (H SS), m mm m m -

, x m , m , x k
. D m m m m ( C ). O k

, x m , H E–β m k . C mm
m H SC β m .

P , m
M m m m ,

. T m j m ( m - m . A m U

) m β- m . S SCD.

A m , - DNA

m Etiology

m m -

m . S x m m - T k m m .

m j H S m H A

B x . . (GA G )

N m m m- m x β

: H A ( % %), H A ( % %), H A m m ..T m

( % %), m (H F) ( %). m z ( ), x

T m j H A. , k . T m z m -

m m m m .

. (RBC ) m x m m .