Hemoglobin F Only Syndrome at Birth: A Case of Maternal HbA2' Complicating the Diagnosis of β-Thalassemia

An asymptomatic infant of Ghanaian descent had hemoglobin F only detected on newborn screening. β-globin gene sequencing identified the intervening sequence (IVS)-II-849 (A → G) mutation with no normal β-globin gene. β-globin/δ-globin gene sequencing showed that both parents were heterozygous for th...

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Veröffentlicht in:	Journal of pediatric hematology/oncology 2016, Vol.38 (1), p.e32-e34
Hauptverfasser:	Yee, Marianne E M, Quarmyne, Maa-Ohui, Segbefia, Catherine, Young, Andrew N, Zhuang, Lina, Kutlar, Ferdane
Format:	Artikel
Sprache:	eng
Schlagworte:	beta-Thalassemia - diagnosis beta-Thalassemia - genetics Chromatography, High Pressure Liquid Fetal Hemoglobin Hemoglobin A2 - genetics Humans Infant, Newborn Isoelectric Focusing Male
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creator	Yee, Marianne E M Quarmyne, Maa-Ohui Segbefia, Catherine Young, Andrew N Zhuang, Lina Kutlar, Ferdane
description	An asymptomatic infant of Ghanaian descent had hemoglobin F only detected on newborn screening. β-globin gene sequencing identified the intervening sequence (IVS)-II-849 (A → G) mutation with no normal β-globin gene. β-globin/δ-globin gene sequencing showed that both parents were heterozygous for the IVS-II-849 (A → G) mutation. The mother was heterozygous for the HbA2' δ-globin mutation (δ16 (A13) Gly → Arg), thus β-thalassemia trait was unrecognized due to coinheritance of HbA2'. The infant developed anemia, splenomegaly, and began transfusion therapy by the age 6 of months. This is the first report of β-thalassemia major with homozygous IVS-II-849 (A → G) mutations. This case highlights the importance of δ-globin gene mutations in prenatal testing.
doi_str_mv	10.1097/MPH.0000000000000477
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The mother was heterozygous for the HbA2' δ-globin mutation (δ16 (A13) Gly → Arg), thus β-thalassemia trait was unrecognized due to coinheritance of HbA2'. The infant developed anemia, splenomegaly, and began transfusion therapy by the age 6 of months. This is the first report of β-thalassemia major with homozygous IVS-II-849 (A → G) mutations. 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subjects	beta-Thalassemia - diagnosis beta-Thalassemia - genetics Chromatography, High Pressure Liquid Fetal Hemoglobin Hemoglobin A2 - genetics Humans Infant, Newborn Isoelectric Focusing Male
title	Hemoglobin F Only Syndrome at Birth: A Case of Maternal HbA2' Complicating the Diagnosis of β-Thalassemia
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