Medical Professionals

Haemoglobinopathies

A haemoglobinopathy is a condition (disease or trait) caused by a defect in the genetic code for hemoglobin synthesis, there are over 600 known hemoglobin variants reported. These variants are characterized as either qualitative or quantitative Haemoglobinopathies. This disorder is characterized by either reduced synthesis of one or more globin chain or synthesis of structurally abnormal variant hemoglobin.

The World Health Organization (WHO) estimates that globally at least 5% of adults are carriers for a haemoglobin condition: approximately 2.9% for thalassaemia and 2.3% for sickle cell disease. It means 5% of the world population is carriers of different inherited disorders of hemoglobin, making them the most common monogenic disease.

Classifications of Hemoglobinopathies

  • Qualitative
  • Quantitative

Qualitative defects

Qualitative defects are defined as structural variations that result in a change of the type of hemoglobin produced. 95% of the structural variants are caused by a single amino acid replacement. The amino acid replacement or substitution changes the quality, and specification of the hemoglobin. Each substitution changes the function of the hemoglobin molecule in a particular way.

Quantitative defects

Quantitative defects are characterized by a reduction or absence in the amount of normal alpha and/or beta globin chains produced. An example of a quantitative defect is beta thalassemia. When an individual has beta thalassemia trait, beta chains are being produced, but in a lesser quantity. Because individuals with quantitative defects may still have hemoglobin A, hemoglobin so we need combination of tools to diagnose such disorders.

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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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