7. Inherited hemolytic anemia: classification, clinical appearance, treatment.

Question 1

what are the inherited hemolytic anemias ?

Answer 1

thalessemia

hemoglobin c disease
= diagnosisi only mad through hb electropheoressis

sickle cell anemia

heriditory spherocytes

glucose 6 phosphate deficiency

Question 2

what type of anemia is present in thalessemia ?

Answer 2

microcytic hypochromic anemia = because hemoglobin is not produced

Question 3

which gene is affected in alpha thalessemia ?

Answer 3

chromosome 16

4 alpha genes

Question 4

what are the alpha thalesemia classification ?

Answer 4

1 loci only deleted
alpha thalesemia trait
asymptomatic

2 loci deleted = thalesemiaa minor
asymptomatic

3 loci deleted
HBH disease
where there is now excessive beta chains
which clump together to give tetramers b4
damage the cell membrane and intrameduallry hemolysis
extravascular hemolysisi = red blood cells ae detroyed in the spleen

HBH - high affinity tooxygen does no to relase
enlargmnet of liver and pleen
and skull

4 alpha genes deleted = hb barts 
hydrops fetalis (super affinity for oxygen )

Question 5

what type of heriditory is alpha thalesmia

Answer 5

autosomal recessive

Question 6

what does the peripheral blood smear show in alpha thalessemia ?

Answer 6

target cells -
gaolf ball like rbc

=====
hemoglobin electrophoresisi

=====
genetic testing

Question 7

what is the treatmnet for thalessemia ?

Answer 7

blood transfusion with iron chelating agents

Question 8

which gene is affected in beta thalessemia ?

and what is the heriditory pattern of beta thalessemia

Answer 8

chromsome 11

Question 9

what is the classifiation of beta thalessemia ?

Answer 9

heterozygous
minor b thaleseemia

homozygous
intermediate

or majro b thalesemiia
alpha globulins will peripiptate with hertodimers = bone marrow hemolysisi
in the spleen = extravascular hemolytic anemia
= epo released
= hepatosplenomegaly
= medually cavity in the skull enlargen

Question 10

diagnosisi fo beta thalesemia

Answer 10

cbc
microcytic hypochromic anemia

=====
minor 
hemoglobin  electropheroeese 
HBA2 high 
and HBF high

Question 11

what causes sickle cell anemia ?

Answer 11

point mutation in the b chan of the hemoglobin = Hemoglob S

Question 12

what are the sympotms for sickle cell crisis ?

Answer 12

acute strong episodes of pain

organ ischemia

Question 13

what are the microcytic hemolytic anemia ?

Answer 13

thalessemia

Question 14

what are the normocytic hemolytic anemia ?

Answer 14

sickle cell anemia
hbc disease

glucose 6 phosphate deficieny

heridotry spherocytosis

Question 15

what is seen in the peripheral blood smear of glucose 6 phospage dehydrogenase deficicny ?

Answer 15

heinz bodies

Question 16

in any type of hemlytic anemia in cbc what do we see ?

Answer 16

reticulocytosisi 
hyperbilirubinemia 
increased ldh 
decreased haptoglobin 
hemoglobinurea