Work

Hematologic profile of hemoglobin constant spring and its co-inheritance with hemoglobin C: a case report

Year: 2025

Type: article

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.

Source: Medical Journal of Indonesia

DOI: 10.13181/mji.cr.257664

Authors: Sumaiyah Adzahar, Sharifah Sakinah Syed Abdul Rahman, Mohammad Hudzaifah Nordin, Nabilah Rameli

Institution: Sultan Zainal Abidin University

Language: English

Topic: Hemoglobinopathies and Related Disorders

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $300