(GγAγδβ)0$({}^{\rm G}{\gamma}{}^{\rm A}{\gamma}\delta\beta)^0$‐Thalassemia: Report of two cases in a family

Case 1 presented with severe anemia and received an intrauterine blood cell transfusion at 33 weeks of gestation. The anemia spontaneously improved in early infancy. Case 2, the father of Case 1, had an uneventful birth with no evidence of anemia, though microcytic anemia was observed during childho...

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Bibliographic Details
Published in:Pediatric blood & cancer 2023-12, Vol.70 (12), p.e30666
Main Authors: Tomiyama, Mana, Takayama, Saki, Konno, Hiroko, Murakoshi, Takeshi, Koga, Masafumi, Nakamura, Momoko, Yamashiro, Yasuhiro, Matsubayashi, Tadashi
Format: Article
Language:English
Subjects:
Anemia
Blood transfusion
Children
Diagnosis
Gene deletion
Genetic analysis
Genetic screening
Hematology
Oncology
Pediatrics
Thalassemia
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Summary:Case 1 presented with severe anemia and received an intrauterine blood cell transfusion at 33 weeks of gestation. The anemia spontaneously improved in early infancy. Case 2, the father of Case 1, had an uneventful birth with no evidence of anemia, though microcytic anemia was observed during childhood. The genetic analysis of the β‐globin gene cluster identified a novel heterozygous deletion of DNA extending from the Gγ‐globin gene downstream to the β‐globin gene, confirming a diagnosis of ( G γ A γδβ) 0 ‐thalassemia. In cases where thalassemia is suspected based on blood tests, a genetic diagnosis should be performed for the sake of the offspring.
ISSN:1545-5009
1545-5017
1545-5017
DOI:10.1002/pbc.30666