2. DREPANOCYTOSIS
• Also known as sickle cell anaemia
• Characterised by the presence of Hbs which
imparts sickle shape to the RBCs during reduced
oxygen tension
• Autosomal Recessive
5. • Sickle cell anaemia –SS one gene each from both
the parents
• Sickle cell trait- heterozygous state-AS-one gene
from one parent is for HbS while other gene is
for HbA
• Sickle cell disease- refers to all diseases in which
atleast one gene is of HbS which maybe in
combination with normal or abnormal gene eg.
Thalassemia,HbE,HbC,etc..
7. Hemoglobin S (Hb S) is the result
of a single base pair change,
thymine for adenine, at the 6th
codon of the β-globin gene.
This change encodes valine instead
of glutamine in the 6th position in
the β-globin molecule
9. CLINICAL FEATURES
• Age of onset – 3 months to 1 year of life
(<3 months- HbF protects RBCs)
• Growth and development – reduced height
& weight , delayed puberty
• Bony Abnormalities – Hand food syndrome ,
Cod fish spine, Osteomyelitis due to
staphylococcus, salmonella
• Spleen- initially enlarges but after 5-6 years of
age autosplenectomy
14. INVESTIGATIONS
• HAEMATOLOGICAL FINDINGS
Anaemia,WBC- TLC shift to left,Platelets ^
Peripheral smear – Anisopoikilocytosis,Sickle
cells,Target cells,Ovalocytes,Howell Jolly bodies
if autosplenectomy has taken place
Reticulocytosis,low
haptoglobulin,^urobilinogen,low ESR
Marrow- Hypercellular with erythroid hyperplasia
demonstrating normoblastic reaction
15. DIAGNOSTIC TESTS
• Sickling test- adding reducing agent like 2%
sodium metabisulphite
• Hb electrophoresis – Hb S is a slow moving Hb
• HPLC
• Hb F estimation
• Family studies
• Hb S solubility
16. PRINCIPLES OF TREATMENT
• Folic acid
• Patient education – awareness about
precipitating factors about crisis
• Hydroxy urea- reduces the incidence of sickling
and elevates Hb F
• Blood transfusions
• Treating infections
19. PANMYELOPTHISIS
• Synonymous with Aplastic Anaemia
• Aplastic anemia is a clinical syndrome
manifested as a deficiency of red cells,
neutrophils, monocytes, and platelets in the
blood, and fatty replacement of the marrow with
a near absence of hematopoietic precursor cells