# Relationship of Baseline Hemoglobin Level with Serum Ferritin, Postphlebotomy Hemoglobin Changes, and Phlebotomy Requirements among HFE C282Y Homozygotes

**Authors:** Seyed Ali Mousavi, Faiza Mahmood, Astrid Aandahl, Teresa Risopatron Knutsen, Abid Hussain Llohn

PMC · DOI: 10.1155/2015/241784 · BioMed Research International · 2015-08-26

## TL;DR

This study explores how baseline hemoglobin levels in patients with a specific genetic mutation relate to iron levels and treatment needs.

## Contribution

The study identifies distinct hemoglobin subgroups among C282Y-homozygous patients with different phlebotomy requirements and iron depletion responses.

## Key findings

- Baseline serum ferritin explains 6-7% of hemoglobin variation in C282Y-homozygous patients.
- Males with higher baseline hemoglobin required fewer phlebotomies but had greater posttreatment hemoglobin reduction.
- Female subgroups with different baseline hemoglobin levels showed similar treatment response patterns as males.

## Abstract

Objectives. We aimed to examine whether baseline hemoglobin levels in C282Y-homozygous patients are related to the degree of serum ferritin (SF) elevation and whether patients with different baseline hemoglobin have different phlebotomy requirements. Methods. A total of 196 patients (124 males and 72 females) who had undergone therapeutic phlebotomy and had SF and both pre- and posttreatment hemoglobin values were included in the study. Results. Bivariate correlation analysis suggested that baseline SF explains approximately 6 to 7% of the variation in baseline hemoglobin. The results also showed that males who had higher (≥150 g/L) baseline hemoglobin levels had a significantly greater reduction in their posttreatment hemoglobin despite requiring fewer phlebotomies to achieve iron depletion than those who had lower (<150 g/L) baseline hemoglobin, regardless of whether baseline SF was below or above 1000 µg/L. There were no significant differences between hemoglobin subgroups regarding baseline and treatment characteristics, except for transferrin saturation between male subgroups with SF above 1000 µg/L. Similar differences were observed when females with higher (≥138 g/L) baseline hemoglobin were compared with those with lower (<138 g/L) baseline hemoglobin. Conclusion. Dividing C282Y-homozygous patients into just two subgroups according to the degree of baseline SF elevation may obscure important subgroup variations.

## Full-text entities

- **Genes:** TF (transferrin) [NCBI Gene 7018] {aka HEL-S-71p, PRO1557, PRO2086, TFQTL1}, TFRC (transferrin receptor) [NCBI Gene 7037] {aka CD71, IMD46, T9, TFR, TFR1, TR}, SLC11A2 (solute carrier family 11 member 2) [NCBI Gene 4891] {aka AHMIO1, DCT1, DMT1, NRAMP2}, HJV (hemojuvelin BMP co-receptor) [NCBI Gene 148738] {aka HFE2, HFE2A, JH, RGMC}, HAMP (hepcidin antimicrobial peptide) [NCBI Gene 57817] {aka HEPC, HFE2B, LEAP1, PLTR}, BMPR1A (bone morphogenetic protein receptor type 1A) [NCBI Gene 657] {aka 10q23del, ACVRLK3, ALK-3, ALK3, BMPR-1A, CD292}, GNPAT (glyceronephosphate O-acyltransferase) [NCBI Gene 8443] {aka DAP-AT, DAPAT, DHAPAT, RCDP2}, HLA-G (major histocompatibility complex, class I, G) [NCBI Gene 3135] {aka MHC-G}, SLC40A1 (solute carrier family 40 member 1) [NCBI Gene 30061] {aka FPN, FPN1, HFE4, IREG1, MST079, MSTP079}, BMP6 (bone morphogenetic protein 6) [NCBI Gene 654] {aka IO, VGR, VGR1}, HFE (homeostatic iron regulator) [NCBI Gene 3077] {aka HFE1, HH, HLA-H, MVCD7, TFQTL2}, TFR2 (transferrin receptor 2) [NCBI Gene 7036] {aka HFE3, TFRC2}, ACVR1 (activin A receptor type 1) [NCBI Gene 90] {aka ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1}
- **Diseases:** anemia (MESH:D000740), cirrhosis (MESH:D005355), iron (MESH:D000090463), HFE-associated (MESH:D006432), SF (MESH:D000085583), liver cirrhosis (MESH:D008103), cardiovascular problems (MESH:D002318), Iron overload (MESH:D019190), TS (MESH:C537248), alcohol abuse (MESH:D000437)
- **Chemicals:** Fe2-Tf (-), iron (MESH:D007501),  (MESH:D015395),  (MESH:C103673)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** C282Y, H63D, p.D519G

## Full text

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## References

37 references — full list in the complete paper: https://tomesphere.com/paper/PMC4563067/full.md

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Source: https://tomesphere.com/paper/PMC4563067