Human hemoglobin G-Makassar variant masquerading as sickle cell anemia

Area of Science:

• Hematology
• Genetics
• Molecular Biology

Background:

• Hemoglobin G-Makassar (Hb G-Makassar) is an extremely rare hemoglobin variant.
• It has been infrequently reported in association with Beta Thalassemia.
• First identified in Indonesia in 1969, its occurrence is geographically limited.

Purpose of the Study:

• To report a novel case of Hemoglobin G-Makassar.
• To document the presence of Hb G-Makassar in Malaysia.
• To contribute to understanding the distribution of rare hemoglobinopathies.

Main Methods:

• Clinical investigation of a 45-year-old Malay male presenting with anemia and thrombocytopenia.
• Diagnostic workup including hemoglobin analysis.
• Case reporting and literature review.

Main Results:

• Diagnosis of Hemoglobin G-Makassar in a Malaysian patient.
• This represents a new geographical finding for Hb G-Makassar after its identification in Thailand.
• The patient presented with symptoms of anemia and thrombocytopenia.

Conclusions:

• Hemoglobin G-Makassar is confirmed as a rare hemoglobinopathy present in Malaysia.
• This finding expands the known geographical distribution of Hb G-Makassar.
• Further research into rare hemoglobin variants and their clinical implications is warranted.