Haemoglobin Köln in Cape Town. A case report

Area of Science:

• Hematology
• Medical Genetics
• Molecular Biology

Background:

• Hemoglobinopathies represent a group of inherited blood disorders characterized by abnormalities in the structure or synthesis of hemoglobin.
• Unstable hemoglobin variants, such as Hemoglobin Köln, can lead to chronic or acute hemolytic anemia due to premature red blood cell destruction.

Observation:

• A 7-year-old patient presented with a sudden episode of acute hemolytic anemia.
• Diagnostic investigations revealed the presence of an abnormal and unstable hemoglobin, specifically identified as Hemoglobin Köln.
• Genetic analysis indicated that the affected patient's family members did not exhibit this specific hemoglobin variant.

Findings:

• The identified unstable hemoglobin was confirmed as Hemoglobin Köln (Hb Köln).
• The absence of Hb Köln in other family members suggests a potential de novo or spontaneous mutation.
• This case marks the first documented instance of Hemoglobin Köln within a South African family.

Implications:

• This report expands the known geographical distribution of Hemoglobin Köln.
• It highlights the importance of considering spontaneous mutations in the genetic etiology of unstable hemoglobin disorders.
• Further research into the prevalence and genetic origins of unstable hemoglobin variants in diverse populations, including South Africa, is warranted.