Abstract | BACKGROUND AND OBJECTIVE: PATIENTS AND METHOD: Patients and probands were studied according to the Anemia Unit protocol: complete blood count, biochemical profile (diabetes, hepatic and renal), hepatic serologies, iron metabolism ( iron, transferrin, ferritin, transferrin saturation, reactive C protein) and mutation HFE gene studies (C282Y, H63D). All of them were sent to the Ophthalmology Service for cataract study. L-ferritin mutational scanning was performed by denaturing high performance liquid chromatography (DHPLC). Samples displaying an altered elution profile, as compared to a wild type control, were directly sequenced for the precise characterization of the L-ferritin mutation. RESULTS: Family A proband was a 54 year-old-female, with cataracts, ferritin level: 942 pg/I, transferrin saturation: 14%, HFE gen study: H63D/H63D; L-ferritin gene study: C33T mutation/-. Her two sons had cataracts, hyperferritinemia (1607, and 1188 pg/I, respectively), normal transferrin saturation (40% and 9%), HFE gene study: H63D/N; and L-ferritin gen study: C33T/-. Family B proband was a 39 year-old-female, with cataract, ferritin level: 636 pg/I, transferrin saturation: 25%, HFE gene study: H63D/N; and L-ferritin gene study: A37T/-. Her two sons, sister, brother and nephew, who were affected with A37T mutation, showed hyperferritinemia (883, 747, 835, 613 and 1396 pg/I) with normal transferrin saturation levels (17%, 34%, 25%, 18% and 24%); but the ferritin levels of those non-affected were normal (35 and 50 pg/I). CONCLUSIONS: HHCS is a dominant autosomic condition, with a possible world-wide distribution,which should be included in the differential diagnosis of hyperferritinemia studies. It is important to suspect it in order to avoid wrong treatment.
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Authors | José Antonio García Erce, Teresa Cortés, Laura Cremonesi, Mario Cazzola, Gonzalo Pérez-Lungmus, Manual Giralt |
Journal | Medicina clinica
(Med Clin (Barc))
Vol. 127
Issue 2
Pg. 55-8
(Jun 10 2006)
ISSN: 0025-7753 [Print] Spain |
Vernacular Title | Hiperferritinemia familiar y cataratas congénitas asociadas a mutación del gen HFE. Dos nuevas familias españolas y una nueva mutación (A37T: "Zaragoza"). |
PMID | 16900584
(Publication Type: Journal Article)
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Chemical References |
- HFE protein, human
- Hemochromatosis Protein
- Histocompatibility Antigens Class I
- Membrane Proteins
- Ferritins
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Topics |
- Adolescent
- Adult
- Cataract
(genetics)
- Child
- Child, Preschool
- Female
- Ferritins
(blood)
- Hemochromatosis Protein
- Histocompatibility Antigens Class I
(genetics)
- Humans
- Iron Metabolism Disorders
(blood, genetics)
- Male
- Membrane Proteins
(genetics)
- Middle Aged
- Mutation
- Pedigree
- Spain
- Syndrome
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