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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