Path/Thalassemias Flashcards
How do you diagnose thalassemia? WHich methods work for detecting alpha and beta?
Beta: PCR, HPLC, gel, smear. Alpha: only PCR or smear.
What is hereditary persistance of HbF?
Low Hb B, high Hb F, sickle-like syndrome
What is HbE?
HbE is Hb B with G26K mutation; leads to unstable mRNA and B-thal minor type disease in homozygotes
What is E/B- Thal?
One B-thal gene and one HbE gene, manifests as B-thal minor or intermedia
How do you detect HbE/B-thal?
It moves on gels just like A2 so you must look for a very high concentration
In what population is E/B-thal most common?
Southeast asians
What is Hb Lepore?
2 normal alpha + 2 delta-beta fusion Hbs; non-alpha chains are reduced by 0-% leading to thal major/intermedia in homozygotes
What is the A:B synthesis ratio in alpha-thal silent carriers?
A:B 0.8:0.9
What is the A:B synthesis ratio in alpha-thal trait?
A:B 0.7: 0.8
