Report of Two Cases of Bembay Phenotype in a Family

author

  • Hamid Pour Jafari Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Abstract:

This is a report about two sisters whose red cells were grouped as 0, but their father was grouped as AB and their mother was groupe as O. These two sisters were Bombay phenotype it means they were homozygous for and inactive allele (amorph) H. When H is not formed the enzymes determined by A and B genes have no substrate on which to act, so that hh persons can not make the A or B antigen if they have the A or B gene. 

Upgrade to premium to download articles

Sign up to access the full text

Already have an account?login

similar resources

Primary Pachydermoperiostosis and report of two cases in a family

Pachydermoperiostosis (PDP) is a rare hereditary disease characterized by folded coarse skin, hyperostosis, clubbing of fingers and abnormalities in other organs such as gastrointestinal tract. Because of safety parents guides us to familial incidence and penetration of gene in 50% of cases. Diagnosis is based on clinical and radiological findings. Males are more susceptible than females to thi...

full text

A report of two cases of sarcoidosis in a family(brother and sister):case report

sarcoidosis is a granulomatius disease of unknown etiology involving multiple body systems.approximately 10-35% of patients with systemic disease have cutaneous involvement.skin lesions commonly observed in sarcoidosis include:erythema nodosum,macular or parpular rashes,nodules,hypopigmented or hyperpigmented patches,scarsarcoid,lupus pernio,plaques,and rarely mocusal lesions.this report descri...

full text

A report of two cases of pyknodysostosis in two children

pyknodysostosis is a rare bone disease characterzed with short stature,wide fontaneles,small chin,hyperdensity of bones,erosion of tufts of the disatl phalanges,and narrowing of the mandibular angle. pyknodysostosis is inheritted as an autosomal recessive disease and may be seen in both sexes at any age.the patients have normal life span.short stature and bone fractures are their major problems...

full text

Pseudoxanthoma Elasticum: A Report of Three Cases in a Family

Pseudoxanthoma Elasticum is an inherited disorder characterized by generalized fragmentation and progressive calcification of the elastic tissues in the dermis, blood vessels and Bruch’s membrane of the eye. Herein, we report 3 patients in a family with pseudoxanthoma elasticum: a father and his two sons.

full text

Papillon-Lefevre syndrome: A report of two cases in a family

Palmoplantar keratodermas are a heterogenous group of diseases, one of them is Papillon-Lefevre Syndrome (PLS). This rare disease is inherited as autosomal recessive and characterized by focal hyperkeratotic plaques on elbows and knees, severe periodontal disease resulting in premature loss of teeth. We report two brothers with PLS who did not have a history of this disease in their famil...

full text

My Resources

Save resource for easier access later

Save to my library Already added to my library

{@ msg_add @}


Journal title

volume 13  issue 1

pages  21- 23

publication date 1989-03

By following a journal you will be notified via email when a new issue of this journal is published.

Keywords

Hosted on Doprax cloud platform doprax.com

copyright © 2015-2023