Other Structural Variants

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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#AMTF Blood Donation Camp at Amreli Steels (Dhabeji Unit)
April 24, 2019
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Ms. Fariya Zameen (Head of Marketing) & Mr. Muhammad Azam (Head Services Marketing) from Faysal Bank visited #AMTF
April 24, 2019
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#AMTF Thalassemia Awareness Session at Amreli Steels - Dhabeji Unit
April 23, 2019
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#AMTF Blood Donation Camp at Greenwich University, Karachi
April 16, 2019
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#AMTF Blood Donation Camp at PAF-KIET, Nazimabad Campus
April 15, 2019
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#AMTF Blood Donation Camp at Institute of Business Management (IoBM)
April 9, 2019
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Dr. Asim Qidwai, Founder & CEO AMTF had a meeting with High Commissioner Pakistan at Canada Mr. Raza Bashir Tarar in Ottawa
April 4, 2019PRESS RELEASE
April 04, 2019
Dr. Asim Qidwai, Founder & C.E.O of Afzaal Memorial Thalassemia Foundation (AMTF) called on the High Commissioner of Pakistan, Raza Bashir Tarar and briefed him on the work of the Foundation in the field of health care related to children from blood disorder.
The High Commissioner appreciated the plan of the Foundation for conducting awareness sessions with the Pakistani community living abroad. He agreed with the vision of the foundation to deliver the utmost level of passionate care to the patients of thalassemia. The High Commissioner urged the founder for developing synergy among the institutes working in Pakistan on the childhood blood diseases.
Dr. Asim Qidwai also informed the High Commissioner for his drive to include thalassemia awareness and prevention in the curriculum of high schools and colleges of Pakistan.
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