Other Structural Variants
Hemoglobin C: HbC is a beta globin gene variant. Glutamic acid in the 6th position of the beta chain is replaced by lysine. Red Blood cells containing HbC are more rigid than normal.
Genotypes: HbAC, HbCC, HbC-beta, HbC/HPFH
Hemoglobin D: HbD is a beta globin gene variant. Hemoglobin D-Punjab, D los-Angeles are identical. In both types there is substitution of glutamic acid for lysine.
Genotypes: Hb D-Punjab/Beta Thal, Hb D-Punjab Trait
Hemoglobin O Arab: HbO is a beta globin chain variant. Glutamic acid in 121st position is replaced by glutamine due to point mutation.
Genotypes: Hb O Arab Trait, Hb O Arab Beta Plus or Beta 0.
Hemoglobin E: E Beta Thalassemia: Hemoglobin E is one of the most common abnormal hemoglobins. It is usually found in people of Southeast Asian ancestry, such as Cambodians, Vietnamese and Thai. When combined with beta thalassemia, hemoglobin E produces E beta thalassemia, a moderately severe anemia which is similar in symptoms to beta thalassemia intermedia.
Hemoglobin G Philadelphia: HbG is an alpha chain variant. Two different mutations are reported. Substitution of Asparagine for lysine in 68th position of alpha chain.
Hereditary persistent fetal Hemoglobin (HPFH)
- It results from complete absence of beta and delta chain.
- It was first described in West Africa in Jamaican family.
- HPFH results due to mutation within beta globin cluster that alters normal Hb switching.
Hereditary persistent fetal Hemoglobin (HPFH) Types
- Pan cellular HPFH
- Heterocellular HPFH
Pan cellular HPFH: HbF is distributed uniformly.
Heterocellular HPFH: HbF is distributed heterogeneously.
Genetics
Two different molecular mechanisms can result in HPFH
Deletional HPFH: Result from specific large deletion in beta globin gene cluster involving HBB
Non Deletional HPFH: Result from point mutation in the promoter of gamma globin gene HBG1, HBG2.
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Afzaal Memorial Thalassemia Foundation - Official
tel:+922136366452
In 2003, Dr Asim Qidwai established AMTF- Helping Blood Disorder, a free of cost care to the sufferers of blood diseases.12 months ago
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AMTF – Welcome to Afzaal Memorial Thalassemia Foundation
afzaalfoundation.org
Ramadan-2019 Welcome to AMTF Mission To develop an institute for benign hematology with a well-built research where, quality clinical care will be given regardless of paying ability. Vision To deliver...This content isn't available right now
When this happens, it's usually because the owner only shared it with a small group of people, changed who can see it or it's been deleted.This content isn't available right now
When this happens, it's usually because the owner only shared it with a small group of people, changed who can see it or it's been deleted.Afzaal Memorial Thalassemia Foundation - Official
tel:+923000546025
In 2003, Dr Asim Qidwai established AMTF- Helping Blood Disorder, a free of cost care to the sufferers of blood diseases.Afzaal Memorial Thalassemia Foundation - Official
tel:+923000546025
In 2003, Dr Asim Qidwai established AMTF- Helping Blood Disorder, a free of cost care to the sufferers of blood diseases.