ANEMIA AND ITS TYPES

ANEMIA: TYPES
THALESSEMIA Grk. Thalassa; (the sea)
Hemoglobin conc. below a set point* α- thalassemia β- thalassemia
Depends upon Inherited blood disorder when body
• Age doesn’t make enough Hemoglobin Defect in α chain genes Defect in β chain genes
• Gender
• Physiological status 1 gene (no symp) trait 1 gene (mild sym) β-
• Smoking habits thalassemia minor
• altitudes HISTORY 2 genes (mild sym) α- 2 genes (mod-severe
Cut Off Values Of Hb Gene mutation that cause Thalassemia arose as partial thalassemia minor sym)
(WHO, 2018) protection against Malaria Mod- β-thalassemia
intermedia
Mild 10-lower limit Affects people more with ancestral links to parts of
Sev- β-thalassemia
world with prevalent Malaria (Africa, Southern Europe,
Moderate 8-10 g/dl West, East & South Asia)
major/ Cooley’s
anemia
Severe 6.5-7.9 g/dl
3 genes (mod-sev sym) -
GENETICS Hemoglobin H disease
TYPES OF ANEMIA
Hb 4 chains •• 2 α 4 genes (hydrops -
2β • CBC fetalis)
4 genes(2 from each parent)
• Hb Life long transfusions
TREATMENT
If defect in any of the Electrophoresis Blood Transfusion
genes, the result will • Every 4 months
be Thalassemia • 2-4 weeks (major)
Genetic Testing Iron chelation (removal of excess
iron)
SIGN & SYMPTOMS
Asymptomatic: No symp, or mostly fatigue Iron supplements
Mild-Moderate: Growth prob, delayed
puberty, osteoporosis Bone marrow/ stem cell transplant
(only cure to thalassemia)
Severe: All mild-moderate
symptoms plus Poor appetite, jaundice, dark PRESENTED BY Luspatercept (injection given every 3
Bakht Nihal Khan, Shafaat Haroon, Komail, Aqsa, Ahmad Zeb, weeks for RBC production)
urine, irregular facial appearance Abdal Khan, Mehr Ali