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Tareq Abadl: Sickle Cell Anemia is Not Just Hemoglobin Deficiency, It’s a Genetic Mutation
Tareq Abadl/LinkedIn
Apr 17, 2026, 05:41

Tareq Abadl: Sickle Cell Anemia is Not Just Hemoglobin Deficiency, It’s a Genetic Mutation

Tareq Abadl, Medical Laboratory Specialist and Director of the Blood Bank at Dr. Abdelkader Al-Mutawakkil Hospital, shared a post on LinkedIn:

“Many people think all types of anemia are the same, but Sickle Cell Anemia is completely different!

It’s not just a hemoglobin deficiency — it’s a genetic mutation that changes red blood cells from round to ‘crescent’ or ‘sickle’ shaped.

What Happens?

The mutation occurs in the beta-globin gene, producing HbS instead of normal HbA.

Sickle cells:

  • Live only 10–20 days instead of 120.
  • Stick together and block small blood vessels.
  • Reduce oxygen delivery to tissues, causing pain crises and serious complications.

Types:

  • Sickle Cell Trait:

Carrier, usually symptom-free, but may show problems under stress (low oxygen, dehydration, intense exercise).

  • Sickle Cell Disease:

Fully symptomatic, requires lifelong follow-up.

Compound Heterozygotes: e.g., Sickle and  Thalassemia or Sickle and HbC, producing variable disease severity.

Symptoms:

  • Chronic anemia and fatigue
  • Sudden pain crises in bones and joints
  • Pale skin and delayed growth in children
  • Enlarged spleen and liver
  • Heart and lung problems due to low oxygen
  • Increased infection risk
  • Vision problems or mini-strokes
  • In males: Priapism (painful prolonged erection)
  • Gallstones from continuous red cell breakdown
  • Chronic leg ulcers due to poor circulation
  • Delayed puberty in adolescents

Diagnosis:

1. CBC:

  • Low Hb, abnormal red cell shapes, sometimes high WBC and platelets.

2. Peripheral Smear:

  • Shows sickled cells clearly

3. Hemoglobin Electrophoresis / HPLC:

  • Trait:

Normal HbA + small HbS fraction.

  • Disease:

HbS dominant, HbA absent or very low.

4. DNA Analysis:

Confirms the genetic mutation.

5. Screening Tests:

Sickling test or Solubility test for rapid detection.

Long-Term Complications

  • Iron overload from repeated transfusions
  • Stroke or cerebral infarction
  • Pulmonary hypertension and breathing difficulties
  • Renal failure
  • Vision loss from blocked retinal vessels
  • Frequent infections due to immune dysfunction
  • Leg ulcers from poor circulation
  • Delayed puberty and growth
  • Psychological stress from chronic pain and social stigma

Premarital Screening in Egypt:

  • Mandatory and free under the ‘100 Million Health’ initiative.
  • Includes CBC, blood group, Rh factor, infectious disease tests, and genetic screening for Sickle Cell and Thalassemia.
  • Results are ready within two weeks and discussed confidentially with each partner.
  • Goal: Protect future generations and detect chronic or infectious diseases early.

Role of Society:

  • Spread awareness that genetic testing isn’t a luxury – it’s a necessity for protecting future generations.
  • Break the stigma around hereditary diseases.
  • Support awareness programs in schools and universities.
  • Encourage families to maintain regular medical follow-up for affected children.
  • Provide psychological and social support to help patients live normal lives.”

Tareq Abadl: Sickle Cell Anemia is Not Just Hemoglobin Deficiency, It's a Genetic Mutation

Other posts featuring Tareq Abadl on Hemostasis Today.

 

 

Health Hematology Hemostasis Hemostasis News Hemostasis Today Medicine Sickle Cell Anemia sickle cell trait Thalassemia
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