Entry - 170900 - PERNICIOUS ANEMIA - OMIM

 
ICD+
170900

PERNICIOUS ANEMIA


Clinical Synopsis
 

Heme
- Pernicious anemia
Lab
- Decreased oral absorption of cobalt-60 labeled vitamin B12
Inheritance
- ? Autosomal dominant
▲ Close

▼ TEXT

In the relatives of 34 pernicious anemia probands, McIntyre et al. (1959) tested the ability to absorb orally given doses of cobalt-60 labeled vitamin B12 (Schilling test). The relatives of pernicious anemia patients showed a negative correlation with age; control subjects did not. The relatives showed a tendency to bimodality. Forty-eight percent of sibs and 32% of offspring had abnormal absorption. The authors suggested autosomal dominant inheritance. Wangel et al. (1968) suggested that the tendency to form autoantibodies against gastric parietal cells may be inherited as a dominant with incomplete penetrance. Later studies (McIntyre, 1968) yielded results that make a simple genetic hypothesis difficult to support. As pointed out by Twomey (1975), pernicious anemia shows a 10-fold increase in patients with multiple myeloma and a 250-fold increase in adults with immunoglobulin deficiency.


▼ REFERENCES

  1. Carmel, R., Johnson, C. S. Racial patterns in pernicious anemia: early age at onset and increased frequency of intrinsic-factor antibody in black women. New Eng. J. Med. 298: 647-650, 1978. [PubMed: 628388, related citations] [Full Text]

  2. McIntyre, P. A. Genetic and auto-immune features of pernicious anemia. I. Unreliability of the Schilling test in detecting genetic predisposition to the disease. Johns Hopkins Med. J. 122: 181-183, 1968. [PubMed: 5648177, related citations]

  3. McIntyre, P. A., Hahn, R., Conley, C. L., Glass, B. Genetic factors in predisposition to pernicious anemia. Bull. Johns Hopkins Hosp. 104: 309-342, 1959. [PubMed: 13662715, related citations]

  4. Twomey, J. J. An immunologic classification of pernicious anemia. In: Bergsma, D. : Immunodeficiency in Man and Animals. New York: National Foundation-March of Dimes (pub.) 1975. Pp. 215-218.

  5. Wangel, A. G., Callender, S. T., Spray, G. H., Wright, R. A family study of pernicious anaemia. I. Autoantibodies, achlorhydria, serum pepsinogen and vitamin B12. Brit. J. Haemat. 14: 161-181, 1968. [PubMed: 4865547, related citations] [Full Text]

  6. Wangel, A. G., Callender, S. T., Spray, G. H., Wright, R. A family study of pernicious anaemia. II. Intrinsic factor secretion, vitamin B12 absorption and genetic aspects of gastric autoimmunity. Brit. J. Haemat. 14: 183-204, 1968. [PubMed: 5635601, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/2/1986
Edit History:
mimadm : 1/14/1995
davew : 8/15/1994
carol : 6/26/1992
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989

170900

PERNICIOUS ANEMIA


SNOMEDCT: 84027009;   ICD10CM: D51.0;   ICD9CM: 281.0;   DO: 13381;  



TEXT

In the relatives of 34 pernicious anemia probands, McIntyre et al. (1959) tested the ability to absorb orally given doses of cobalt-60 labeled vitamin B12 (Schilling test). The relatives of pernicious anemia patients showed a negative correlation with age; control subjects did not. The relatives showed a tendency to bimodality. Forty-eight percent of sibs and 32% of offspring had abnormal absorption. The authors suggested autosomal dominant inheritance. Wangel et al. (1968) suggested that the tendency to form autoantibodies against gastric parietal cells may be inherited as a dominant with incomplete penetrance. Later studies (McIntyre, 1968) yielded results that make a simple genetic hypothesis difficult to support. As pointed out by Twomey (1975), pernicious anemia shows a 10-fold increase in patients with multiple myeloma and a 250-fold increase in adults with immunoglobulin deficiency.


See Also:

Carmel and Johnson (1978); Wangel et al. (1968)

REFERENCES

  1. Carmel, R., Johnson, C. S. Racial patterns in pernicious anemia: early age at onset and increased frequency of intrinsic-factor antibody in black women. New Eng. J. Med. 298: 647-650, 1978. [PubMed: 628388] [Full Text: https://doi.org/10.1056/NEJM197803232981203]

  2. McIntyre, P. A. Genetic and auto-immune features of pernicious anemia. I. Unreliability of the Schilling test in detecting genetic predisposition to the disease. Johns Hopkins Med. J. 122: 181-183, 1968. [PubMed: 5648177]

  3. McIntyre, P. A., Hahn, R., Conley, C. L., Glass, B. Genetic factors in predisposition to pernicious anemia. Bull. Johns Hopkins Hosp. 104: 309-342, 1959. [PubMed: 13662715]

  4. Twomey, J. J. An immunologic classification of pernicious anemia. In: Bergsma, D. : Immunodeficiency in Man and Animals. New York: National Foundation-March of Dimes (pub.) 1975. Pp. 215-218.

  5. Wangel, A. G., Callender, S. T., Spray, G. H., Wright, R. A family study of pernicious anaemia. I. Autoantibodies, achlorhydria, serum pepsinogen and vitamin B12. Brit. J. Haemat. 14: 161-181, 1968. [PubMed: 4865547] [Full Text: https://doi.org/10.1111/j.1365-2141.1968.tb01485.x]

  6. Wangel, A. G., Callender, S. T., Spray, G. H., Wright, R. A family study of pernicious anaemia. II. Intrinsic factor secretion, vitamin B12 absorption and genetic aspects of gastric autoimmunity. Brit. J. Haemat. 14: 183-204, 1968. [PubMed: 5635601] [Full Text: https://doi.org/10.1111/j.1365-2141.1968.tb01486.x]


Creation Date:
Victor A. McKusick : 6/2/1986

Edit History:
mimadm : 1/14/1995
davew : 8/15/1994
carol : 6/26/1992
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: June 9, 2024