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Unstable Hemoglobin Variants: The Need for Clinical Vigilance in Infants with Congenital Jaundice
Hua Jiang1, Jian-Ying Zhou2, Jian Li2
1a Department of Hematology/Oncology , Guangzhou Women and Children's Medical Center, Guangzhou Medical University , Guangzhou , Guangdong Province , People's Republic of China.
Insights
Unstable hemoglobin variants can cause congenital jaundice in infants but are often overlooked. Genetic sequencing confirmed Hb Sabine in a 14-month-old boy with prolonged jaundice, highlighting the need for molecular diagnosis.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Unstable hemoglobin (Hb) variants are rare causes of congenital hemolytic anemia and jaundice.
- Jaundice in infants due to Hb variants is frequently underdiagnosed or considered late.
- Congenital jaundice requires thorough investigation, including genetic analysis, for accurate diagnosis.
Abstract:
Unstable hemoglobin (Hb) variants are a rare etiology of congenital jaundice caused by hemolytic anemia. For infant patients with jaundice this disorder is often under diagnosed or the last consideration. We report a 14-month-old boy, who presented with a long-standing jaundice. His diagnosis of Hb Sabine [β91(F7)Leu→Pro; HBB: c.275T > C] was not revealed until gene sequencing of the β-globin gene was performed.
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