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Updated: Apr 30, 2026
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Haemoglobin sickle d punjab: - a case report.
A Rahimah1, O Syahira Lazira2, H M A Siti Hida2
1Institute for Medical Research (IMR), Haematology Unit, Jalan Pahang, 50588 Kuala Lumpur, Malaysia. ahmadrahimah@hotmail.com.
Haemoglobin S D-Punjab is a rare genetic blood disorder. Early diagnosis and management are crucial for preventing complications in affected children.
Area of Science:
- Genetics
- Hematology
- Molecular Biology
Background:
- Haemoglobin S D-Punjab is a rare compound heterozygous haemoglobinopathy.
- It is characterized by two specific beta-globin gene variants: Β6(GAG→GTG) and Β121(GAA→CAA).
- Clinical and hematological features often resemble those of sickle cell disease.
Purpose of the Study:
- To report the first case of doubly heterozygous HbSD-Punjab in Malaysia.
- To emphasize the importance of accurate genotyping for rare hemoglobinopathies.
- To highlight the need for effective patient management strategies.
Main Methods:
- Case report of a child diagnosed with HbSD-Punjab.
- Management involved regular blood transfusions initiated at one year of age.
- Genetic analysis confirmed the compound heterozygous state for the specified beta-globin variants.
Main Results:
- The case represents the first documented instance of HbSD-Punjab in Malaysia.
- The patient's condition mimicked sickle cell disease, necessitating careful differentiation.
- Early intervention with blood transfusions was initiated for management.
Conclusions:
- Rare hemoglobinopathy phenotypes can occur in multi-ethnic populations.
- Accurate genotyping is essential to prevent misdiagnosis and ensure appropriate genetic counseling.
- Proactive management strategies are vital for preventing complications in patients with HbSD-Punjab.
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