Open AccessThe First Documented Case of Hb South Florida Variant in Portugal
Author(s) -
Marta Braga Martins,
Luís Dias,
Vânia Gomes,
Cristina Rodrigues
Publication year - 2022
Publication title -
acta médica portuguesa
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.316
H-Index - 21
eISSN - 1646-0758
pISSN - 0870-399X
DOI - 10.20344/amp.16052
Subject(s) - hemoglobin , medicine , diabetes mellitus , gynecology , thrombophilia , thrombosis , endocrinology
We present a 39-year-old male, previous smoker, with no other known cardiovascular risk factors. He was referred to Internal Medicine for study of thrombophilia, because of repeated deep vein thrombosis. Multiple diagnostic tests were undertaken where HbA1c assay was included. The result was 14.6%. The patient did not have a prior diagnosis of diabetes and denied any symptoms. Fasting blood glucose and blood count did not reveal any changes. A further analysis of hemoglobin subtypes showed the presence of an unclassified variant. The sample was sent to a Portuguese reference center and, through molecular biology, an HBB mutation in heterozygosity was identified, coding for an hemoglobin variant - Hb South Florida (c.4G > A; p.Val2Met), which was for the first time documented in Portugal. We emphasize the importance of considering the presence of hemoglobin variants when HbA1C values are discrepant from the clinical presentation.