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Article

Coexistence of two β-globin gene deletions in a Chinese girl with β-thalassemia minor.

Hemoglobin - 1 Jan 2014

Huang Ge, Li Ping, Li Yun-Xiong, Ye Lian-Zhen

Abstract excerpt

This study reports a rare case of β(41/42,Cap)/β(A) genotype in a girl with β-thalassemia (β-thal) minor. The 13-month-old Chinese proband suffered anemia, diarrhea, stunted growth and emaciation. The routine polymerase chain reaction-reverse dot-blot (PCR-RDB) test result for β-thal mutations indicated that she was a compound heterozygote for β(41/42) and β(Cap). However, the complete blood cell (CBC) test gave...

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Source

Identifiers

PMID: 24200214
DOI: 10.3109/03630269.2013.853673

Genes

HBB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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