2. HEMOGLOBIN HbCC
Definition and
causes
HbC caused by a mutation in β chains (β6 Glu→ Lys) which
is associated Insoluble hemoglobin like HbSS.
Hemolytic anemia varies from moderate to severe, similar With
crystals forming in or out of RBC and folded cells
2
3. HEMOGLOBIN HbCC
Diagnostic test Electrophoresis: HbCC
HbA Nil
HbA2: Normal
HbF: 7%
HbC: >90 %
Hemoglobin trait HbAC
HbA: 55-60 %
HbA2: Normal
HbF: Normal
HbC: 35-45 %
3
4. HEMOGLOBIN E–β-THALASSEMIA
Definition
and causes
HbE caused by a mutation in β chains (β26 Glu→ Lys)
which is associated with the phenotype of β thalassaemia.
Hemolytic anemia varies from moderate to severe, similar to β-
thalassemias Very small RBC with MCV lower than 60 fl
4
6. β- chain - Hemoglopinopathies
Hb Defect Hb type RBC changes
HbSS Valine Replace Glu at
6th position of β- chain
Produce insoluble Hb Sickling shape
HbCC Lysin Replace Glu at 6th
position of β- chain
Produce insoluble Hb Crystals inside the RBC
And folded cells
HbEE Lysin Replace Glu at
26th position of β-
chain
Produce unstable Hb Microcyte with MCV 55
fl
6
8. Hemoglopinopathies combinations
SC disease is a variant of homozygous sickle
cell anemia (SS disease) which is of almost
equal severity and has a similar clinical
presentation
Clinical phenotype of
HbE/β thalassaemia resembles
either thalassaemia major
8
9. SUMMARY ……Sickle-cell syndromes
Mostly the following clinical syndrome types
are observed
Type
Sickle-cell Disease – HbSS Homozygous βs/βs
Sickle-cell trait - HbAS Heterozygous β/βs
Sickle-cell haemoglobin / C disease βs/βc
Sickle-cell / β-thalassaemia βs/β0 9