Structural Defects

Structural defects

95% of structural variants are caused by single amino acid replacement .This amino acid replacement or substitution changes the quality or characrtistics of haemoglobin. For example HbS, C, E, D, G, O all contain substitution of a different amino acid into the normal amino acid sequence of beta globin chain.

Sickle cell disease

Hemoglobin S

HbS substitution of Glutamic Acid at position 6 of the beta globin gene leading to the production of a defective form of hemoglobin S. HbS has a tendency to polymerize and deform the red blood cells into characteristic sickle cell.

Prevalence: Effects million throughout the world. Common in sub-Saharan Africa, Cuba, South America, Central America, Saudi Arabia, India, Mediterranean.

  • Homozygous sickle cell: HbSS
  • Heterozygous sickle cell: HbSA
  • Compound Heterozygous: HbSE, HbSE, HbD Punjab, HbS O Arab, HbS/HPFH, HbS/Beta Thal, HbS/alpha Thal.

Sickle Cell Disease Haplotypes

  • Senegal
  • Benin
  • Bantu
  • Asian


Deoxygenation of HbS leads to the conformational changes triggers the formation of large polymers that distorts red blood cells into a sickle shape and decreases the elasticity.

  • complex chronic inflammatory condition.
  • State of chronic activation of coagulation system.
  • Red cell membrane abnormalities.
  • Nitric oxide depletion
  • Increase whole blood viscosity

Clinical Manifestations Sickle Cell Disease

  • Anemia
  • Crisis
  • complications

Acute complications

  • Aplastic crisis
  • Acute chest syndrome
  • Acute splenic sequestration
  • Acute painful crisis
  • Priapism
  • Stroke
  • Recurrent Vasoclusive crisis
  • Papillary necrosis
  • Sepsis

Chronic complications

  • Anemia
  • Jaundice
  • Splenomegaly
  • Cardiomegaly
  • Cholithisais
  • Delayed growth
  • Pulmonary hypertension
  • Leg ulcers
  • Retinopathy
  • Avascular necrosis
  • Transfusion Hemosiderosis

Sickle Cell Disease Types of Crisies

  • Hemolytic crisis
  • Aplastic crisis
  • Sequestration crisis
  • Vasoclusive crises

Sickle Cell Disease Diagnostic Tools & Treatment

Diagnostic Tools

  • Peripheral blood finding.
  • Sickling test
  • Haemoglobin electrophoresis.
  • ESR .
  • Unconjugated bilirubin.
  • LDH & haptoglobin.
  • Newly born screening.
  • Prenatal diagnosis.

Sickle Cell Disease Treatment

  • Daily preventive measures.
  • Routine health care .
  • Infections.
  • Transfusion therapy.
  • Pain management.
  • New therapeutic modalities.
  • Hydroxyurea
  • Bone marrow transplantation.
  • Psychosocial issues.
  • Gene therapy.
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#AMTF Blood Donation Camp at Amreli Steels (Dhabeji Unit)
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Ehsas Karo, Kuch Khas Karo!

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#AMTF Blood Donation Camp at Greenwich University, Karachi
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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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