Novel α0-Thalassemia Deletion Identified in an Indian Infant with Hb H Disease
| Autor: | Stephen O. Brennan, Kylie M Drake, Jordyn A Moore, Beverley M. Pullon |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Genetics
Proband medicine.medical_specialty Hematology business.industry Thalassemia Biochemistry (medical) Clinical Biochemistry medicine.disease Hypochromic microcytic anemia law.invention Chromosome 16 law Internal medicine Gene cluster medicine Multiplex ligation-dependent probe amplification business Genetics (clinical) Polymerase chain reaction |
| Zdroj: | Hemoglobin. 44:297-301 |
| ISSN: | 1532-432X 0363-0269 |
| DOI: | 10.1080/03630269.2020.1797774 |
| Popis: | We report the identification of a large deletion of the α-globin gene cluster, which removed both HBA2 and HBA1 and included the region from HBZ to HBQ1 on chromosome 16 (16p13.3). The α0-thalassemia (α0-thal) deletion was discovered in an Indian family residing in New Zealand. The proband was a 3-month-old female, who presented with a Hb H disease of unknown molecular origin. Routine hematology showed marked hypochromic microcytic anemia, with numerous Hb H inclusion bodies. In the absence of iron deficiency, there was a strong clinical suspicion of α-thal. On initial screening using a multiplex gap polymerase chain reaction (gap-PCR), only the common rightward deletion (-α3.7) was detected. Investigation of the proband's mother and father revealed the mother was heterozygous for the -α3.7 deletion, while none of the seven most common pathogenic α-thal deletions were detected in the father. Multiplex ligation-dependent probe amplification (MLPA) was employed to detect the presence of a novel α0-thal deletion in both the proband and her father. For the proband, the α0-thal deletion in combination with the -α3.7 deletion, eliminated three copies of HBA consistent with a clinical diagnosis of Hb H disease. |
| Databáze: | OpenAIRE |
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