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

Pathophysiology

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.
how can we help you?

Contact us at the AMTF office or submit a Inquiry form online.

#AMTF won the #CSR2020 Award in "Community Health Services"
January 30,2020
... See MoreSee Less

View on Facebook

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.
#DrAsimQidwai
#CSRAward2020 #TheProfessionalsNetwork
www.theprofessionalsnetwork.pk
... See MoreSee Less

View on Facebook

"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
... See MoreSee Less

View on Facebook

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
... See MoreSee Less

View on Facebook

The #RedBusAMTF a concept by Dr. Asim Qidwai arrives at Lakhani House, Adamjee Nagar, Karachi for Blood Drive & Advocacy.
January 12, 2020
... See MoreSee Less

View on Facebook

Happy New Year 2020
from,
#amtf - helping blood disorders
... See MoreSee Less

View on Facebook

The #RedBusAMTF a concept by Dr. Asim Qidwai arrives at #PIA Head Office, Karachi for Blood Drive & Advocacy
December 12, 2019
... See MoreSee Less

View on Facebook

#RedBus at Happy Palace School (Isfahani Campus)
for #amtf Blood Donation Drive
December 5, 2019
... See MoreSee Less

View on Facebook

for donations click here