PMID- 10638700
OWN - NLM
STAT- MEDLINE
DCOM- 20000201
LR  - 20220408
IS  - 0022-2143 (Print)
IS  - 0022-2143 (Linking)
VI  - 135
IP  - 1
DP  - 2000 Jan
TI  - Peripheral blood erythrocyte parameters in hemochromatosis: evidence for 
      increased erythrocyte hemoglobin content.
PG  - 96-104
AB  - We studied peripheral blood erythrocyte parameters and HFE genotypes in 94 
      hemochromatosis probands and 132 white, normal control subjects. Mean red blood 
      cell counts in probands and control subjects were not significantly different. 
      However, mean values of hemoglobin, hematocrit, mean corpuscular volume (MCV), 
      mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration 
      (MCHC) were significantly higher in C282Y/C282Y probands (n = 60) than in 
      wild-type control subjects (n = 65). Probands with other HFE genotypes also had 
      increased mean erythrocyte parameters (other than red blood cell count). 
      Peripheral blood smears prepared before therapeutic phlebotomy revealed that 
      erythrocytes in many probands had increased diameters and were well filled with 
      hemoglobin. Erythrocyte parameters were similar in C282Y/C282Y probands with and 
      without hepatomegaly, elevated serum concentrations of hepatic enzymes, hepatic 
      cirrhosis, diabetes mellitus, arthropathy, or hypogonadism. Among C282Y/C282Y 
      probands, significantly greater values of MCV (but not other erythrocyte 
      parameters) occurred among those who had transferrin saturation values of 75% or 
      greater or iron overload at diagnosis. After iron depletion, the mean MCV, MCH, 
      and MCHC values of C282Y/C282Y probands decreased but remained significantly 
      greater than values in wild-type control subjects. Mean values of prephlebotomy 
      MCH and MCHC concentrations were lower in HLA-A3-positive than in HLA-A3-negative 
      C282Y/C282Y probands. We conclude that increased values of mean hemoglobin, 
      hematocrit, MCV, MCH, and MCHC in hemochromatosis probands are caused primarily 
      by increased iron uptake and hemoglobin synthesis by immature erythroid cells. 
      Mechanisms of iron uptake by erythrocytes that could explain these results are 
      discussed.
FAU - Barton, J C
AU  - Barton JC
AD  - Southern Iron Disorders Center, Birmingham, AL 35209, USA.
FAU - Bertoli, L F
AU  - Bertoli LF
FAU - Rothenberg, B E
AU  - Rothenberg BE
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Lab Clin Med
JT  - The Journal of laboratory and clinical medicine
JID - 0375375
RN  - 0 (HFE protein, human)
RN  - 0 (HLA Antigens)
RN  - 0 (Hemochromatosis Protein)
RN  - 0 (Hemoglobins)
RN  - 0 (Histocompatibility Antigens Class I)
RN  - 0 (Membrane Proteins)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Erythrocyte Indices
MH  - Erythrocytes/*metabolism
MH  - Female
MH  - Genotype
MH  - HLA Antigens/genetics
MH  - Hemochromatosis/*blood/genetics/pathology
MH  - Hemochromatosis Protein
MH  - Hemoglobins/genetics/*metabolism
MH  - Histocompatibility Antigens Class I/genetics
MH  - Humans
MH  - Male
MH  - *Membrane Proteins
MH  - Middle Aged
MH  - Reference Values
EDAT- 2000/01/19 00:00
MHDA- 2000/01/19 00:01
CRDT- 2000/01/19 00:00
PHST- 2000/01/19 00:00 [pubmed]
PHST- 2000/01/19 00:01 [medline]
PHST- 2000/01/19 00:00 [entrez]
AID - S0022214300770764 [pii]
AID - 10.1016/s0022-2143(00)70026-6 [doi]
PST - ppublish
SO  - J Lab Clin Med. 2000 Jan;135(1):96-104. doi: 10.1016/s0022-2143(00)70026-6.