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Article | 15-February-2021

An update on the H blood group system

New FUT1 Null Alleles Causing the Bombay Phenotype Since publication of the original review article in 2016,1 11 new alleles silencing the FUT1 gene were published for H– individuals from different populations (Table 1). The new alleles FUT1*01N.22–*01N.25 were formally assigned by the International Society of Blood Transfusion working party. Zanjani et al.2 describe the first homozygous loss of almost the entire FUT1 gene region by a large deletion. Five alleles represented point mutations

E.A. Scharberg, C. Olsen, P. Bugert

Immunohematology, Volume 35 , ISSUE 2, 67–68

case-report | 30-November-2020

Blood group discrepancy in Ah para-Bombay phenotype: a rare blood group variant and its clinical significance

phenotypes due to homozygous amorphous alleles of the FUT1 gene (hh). In these individuals, the type 2 precursor chain remains unchanged, prohibiting them from synthesizing the “H structure,” which is the precursor for A and B.8 RBCs of these individuals are typically serologically negative for H, A, and B along with the presence of naturally occurring anti-H, anti-A, and anti-B in their plasma. The distinguishing feature of para-Bombay is the presence of soluble type 1 ABH substance in mucosa and

M.S. Bhagavathi, N. Das, S. Prakash, A. Sahu, S. Routray, S. Mukherjee

Immunohematology, Volume 37 , ISSUE 4, 160–164

case-report | 25-June-2021

Neonatal testing leading to the identification of Bh (para-Bombay) phenotype in the mother: case report with review of the literature

The Bombay phenotype was identified in 1952 by Bhende and colleagues.1 The Bombay phenotype results from a homozygous deficiency of the FUT1 gene along with a silenced mutation of the FUT2 gene. The incidence of the Bombay phenotype in the Indian population is approximately 1 in 10,000 and is most often due to a T725G mutation in the FUT1 gene and a 10-kb deletion in the FUT2 gene.2 The para-Bombay phenotype is either due to a point mutation or a silence mutation on the FUT1 gene with a normal

G. Mohan, A. Vaidya, S. Shastry

Immunohematology, Volume 37 , ISSUE 2, 59–63

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