KEGG   DISEASE: Heinz body anemia
Entry
H02868                      Disease                                
Name
Heinz body anemia
Description
Heinz body anemia can present with symptoms including jaundice, dyspnea, tachycardia, hematuria, fatigue, and even hypotension. Heinz bodies are inclusions of irreversibly denatured hemoglobin attached to the erythrocyte cell membrane. They are indicative of oxidative injury to the erythrocyte. Oxidative damage may be incurred by external substances or due to hereditary enzyme or hemoglobin defects. It has been reported that congenital Heinz body hemolytic anemia is caused by unstable hemoglobins such as Hb Bristol, Hb Wien, Hb Toyama, and Hb Bibba.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Haemolytic anaemias
    Congenital haemolytic anaemia
     3A1Y  Other specified congenital haemolytic anaemia
      H02868  Heinz body anemia
Gene
HBB [HSA:3043] [KO:K13823]
HBA1 [HSA:3039] [KO:K13822]
HBA2 [HSA:3040] [KO:K13822]
Other DBs
ICD-11: 3A1Y
MeSH: C563030
OMIM: 140700
Reference
PMID:8704193 (HBB)
  Authors
Rees DC, Rochette J, Schofield C, Green B, Morris M, Parker NE, Sasaki H, Tanaka A, Ohba Y, Clegg JB
  Title
A novel silent posttranslational mechanism converts methionine to aspartate in hemoglobin Bristol (beta 67[E11] Val-Met->Asp).
  Journal
Blood 88:341-8 (1996)
Reference
PMID:32029504 (HBB)
  Authors
Hilbert S, Voill-Glaninger A, Holler B, Minkov M
  Title
Hemolytic anemia due to the unstable hemoglobin Wien: manifestations and long-term course in the largest pedigree identified to date.
  Journal
Haematologica 105:e253-e255 (2020)
DOI:10.3324/haematol.2019.236562
Reference
PMID:2833478 (HBA1)
  Authors
Ohba Y, Yamamoto K, Hattori Y, Kawata R, Miyaji T
  Title
Hyperunstable hemoglobin Toyama [alpha 2 136(H19)Leu----Arg beta 2]: detection and identification by in vitro biosynthesis with radioactive amino acids.
  Journal
Hemoglobin 11:539-56 (1987)
DOI:10.3109/03630268709027870
Reference
PMID:7558871 (HBA2)
  Authors
Prchal JT, Adler B, Wilson JB, Baysal E, Qin WB, Molchanova TP, Pobedimskaya DD, Kazanetz EG, Huisman TH
  Title
Hb Bibba or alpha 2 136(H19)Leu-->Pro beta 2 in a Caucasian family from Alabama.
  Journal
Hemoglobin 19:151-64 (1995)
DOI:10.3109/03630269509036935
Reference
PMID:31869086
  Authors
Herman TF, Killeen RB, Javaid MU
  Title
Heinz Body.
  Journal
StatPearls(2025)
Reference
PMID:14184033
  Authors
DACIE JV, GRIMES AJ, MEISLER A, STEINGOLD L, HEMSTED EH, BEAVEN GH, WHITE JC
  Title
HEREDITARY HEINZ-BODY ANAEMIA. A REPORT OF STUDIES ON FIVE PATIENTS WITH MILD ANAEMIA.
  Journal
Br J Haematol 10:388-402 (1964)
DOI:10.1111/j.1365-2141.1964.tb00715.x
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