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All Journal Medical Journal of Indonesia
Nordin, Mohammad Hudzaifah
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Medicine & Pharmacology

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Hematologic profile of hemoglobin constant spring and its co-inheritance with hemoglobin C: a case report Adzahar, Sumaiyah; Rahman, Sharifah Sakinah Syed Abdul; Nordin, Mohammad Hudzaifah; Rameli, Nabilah
Medical Journal of Indonesia Vol. 34 No. 1 (2025): March
Publisher : Faculty of Medicine Universitas Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.13181/mji.cr.257664

Abstract

Hemoglobin constant spring (Hb CS) is an alpha-globin variant characterized by an elongated alpha chain due to a mutation that leads to unstable hemoglobin (Hb) levels. Hemoglobin C (Hb C) is a beta-globin variant associated with mild hemolytic anemia. The co-inheritance of Hb CS and Hb C is uncommon and presents distinct hematologic features. We report the case of a 7-year-old Malaysian male who developed acute polyarthritis due to streptococcal infection. Routine blood tests revealed microcytic hypochromic anemia, suggestive of a thalassemia trait. Hb analysis via high-performance liquid chromatography and capillary electrophoresis detected low hemoglobin A levels with an additional peak in the Hb C zone. DNA analysis confirmed compound heterozygosity for Hb CS and Hb C. Family screening revealed that the mother is an Hb C carrier, and the father is an Hb CS carrier. This case report examined the hematological profile of a patient with this genetic combination.
Co-Authors Adzahar, Sumaiyah Rahman, Sharifah Sakinah Syed Abdul Rameli, Nabilah