Beta Thalassemia Homework
Video 1
1. Beta globin binds with alpha globin to form hemoglobin.
2. 2 beta globin.
3. HbA
4. A point mutation is a mutation that only affects one or only a few nucleotides.
5. Point mutations most often occur in splice sites and promoter regions.
6. Beta+ is less severe than beta- because a person with beta+ is heterozygous and
therefore can still make some normal hemoglobin. A person with beta- will have a much
more severe condition as they cannot form normal any normal hemoglobin.
Part 1
1. It refers to the two alpha and two beta globin that make up one full hemoglobin.
2. The beta globin gene is on the short arm of chromosome 11.
Part 2
1. The beta globin gene is about 900-1000 base pairs long.
2. Exon 1- 146 bp exon 2- 223 bp 261bp
3. There are two introns in the beta globin gene.
4. UTR means untranslated region. The UTRs in the beta globin genes are located at exons
1 and 3.
Part 4
1. Beta globin protein is 146 amino acids long.
2. The mutation for sickle cell is at the second nucleotide of codon 6, where an A is
swapped for a T.
