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 won the #CSR2020 Award in "Community Health Services"
January 30,2020
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Dr. Asim Qidwai is working as a special interest in Haemoglobinopathies and childhood cancers. Dr Asim Qidwai is a founder of AMTF Helping Blood disorder program Karachi, Pakistan.
Dr Asim Qidwai did his medical school in 1995 followed by a residency in pediatric medicine, cardiology haematology and oncology. He also completed his masters in Haemoglobinopathies from University College London Hospital. He is the first Pakistan physician who has completed this Master program in Haemoglobinopathies from University College London Hospital.
Dr Qidwai has developed Pakistan first structured program for haemoglobin disorder with a concept of Multidisciplinary team. Dr Qidwai is also a founder member of Children Cancer Hospital and international Bridging foundation.
Dr Asim Qidwai has been actively involved in various research projects and presented several papers in local and international meetings. Dr Asim Qidwai has a special interest in Haemoglobinopathies and his passion is to develop the best centre for children suffering from different kind of blood disorders free of cost.
Under his leadership, Amtf project is the winner of " I am the change" 2016, "SATHA" (South Asia Triple Helix Award) 2018, "IFA Cambridge Child welfare" 2019.
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"Golden Lady of the Year 2019" Award
Presented to: Dr. Dur e Naz Jamal (Director - SBTA)
Presented by : Dr. Asim Qidwai (Founder & CEO - AMTF)
An initiative taken by Dr. Asim Qidwai and #AMTF to acknowledge the remarkable work and astonishing efforts of individuals in Health Sector of Pakistan
January 24, 2020
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1 month ago

Afzaal Memorial Thalassemia Foundation - Official

The #RedBusAMTF a concept by Dr. Asim Qidwai arrives at #PIA Township, Karachi for Blood Drive & Advocacy.
January 18, 2020
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The #RedBusAMTF a concept by Dr. Asim Qidwai arrives at Lakhani House, Adamjee Nagar, Karachi for Blood Drive & Advocacy.
January 12, 2020
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Happy New Year 2020
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#amtf - helping blood disorders
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The #RedBusAMTF a concept by Dr. Asim Qidwai arrives at #PIA Head Office, Karachi for Blood Drive & Advocacy
December 12, 2019
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#RedBus at Happy Palace School (Isfahani Campus)
for #amtf Blood Donation Drive
December 5, 2019
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