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Updated: Aug 8, 2025
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
[Genetic analysis of a child with Hemoglobin Santa Ana]
1Department of Hematology and Oncology, Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital/Zhengzhou Children's Hospital, Zhengzhou, Henan 450066, China. yujie167@yahoo.com.
Insights
Genetic analysis identified a de novo HBB: c.266T>C variant in a child with Hemoglobin Santa Ana (Hb Santa Ana). This pathogenic variant likely causes the patient's hemolytic anemia.
Area of Science:
- Hematology
- Genetics
- Molecular Biology
Background:
- Hemoglobin Santa Ana (Hb Santa Ana) is a rare hemoglobinopathy.
- Understanding the genetic basis of hemoglobinopathies is crucial for diagnosis and management.
Observation:
- A child presented with anemia, splenomegaly, and altered urine color.
- Clinical findings included hemolytic anemia with elevated Hemoglobin F and an abnormal HPLC peak.
- No common thalassemia mutations were detected.
Findings:
- Next-generation sequencing revealed a heterozygous, de novo HBB: c.266T>C variant.
- This variant was predicted to be pathogenic according to ACMG guidelines.
- The identified variant likely underlies the patient's Hb Santa Ana phenotype.
Implications:
- This finding expands the known spectrum of HBB variants causing hemolytic anemia.
- Genetic diagnosis of Hb Santa Ana is essential for accurate patient care.
- Further research into the functional consequences of this variant is warranted.
Objective:
To explore the genetic basis for a child with Hemoglobin Santa Ana (Hb Santa Ana).
Methods:
The child was admitted to the Children's Hospital of Chongqing Medical University on August 4, 2013 due to anemia, splenomegaly and deepening urine color for 5 years. His clinical data were collected. Peripheral blood samples of the child and his parents were collected for routine blood test. The erythrocyte parameters of the child and his parents were determined with an automatic hemocyte analyzer. The hemoglobin components of the child and his parents were detected by high-performance liquid chromatography (HPLC). Common mutations associated with thalassemia were detected by Gap-PCR and PCR-reverse dot blotting (PCR-RDB). Rare variants of the globin genes were detected by next generation sequencing (NGS), and the result was verified by Sanger sequencing.
Results:
The child has shown mild to moderate hemolytic anemia. Routine blood test showed that he had lower hemoglobin (90 g/L) and mean corpuscular hemoglobin concentration (267 g/L) but a higher reticulocyte ratio (0.141), which indicated hypopigmented hyperplastic anemia. Analysis of hemoglobin component showed that his hemoglobin F was elevated to 10.7%, which indicated abnormal synthesis of β globin peptide chain. HPLC analysis showed an abnormal peak accounting for 4.5% of the total area. Neither of his parents was found to have abnormal results for routine blood test and hemoglobin component analysis. No common globin gene variant was detected in the child. Gene sequencing revealed that the child has harbored a heterozygous variant of HBB: c.266T>C, which was de novo in origin. Based on the guidelines of American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic.
Conclusion:
The heterozygous HBB: c.266T>C variant probably underlay the hemolytic anemia associated with Hb Santa Ana in this patient.
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