Hereditary hemochromatosis: study of laboratory alterations related to polymorphism

Castilhos, Andressa C.; Canci, Bianca T.; Alves, Márcia K.; Goulart, Karen Olívia B.

doi:10.5935/1676-2444.20170035

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LABORATORY MEDICINE, ORIGINAL ARTICLE • J. Bras. Patol. Med. Lab. 53 (4) • Jul-Aug 2017 • https://doi.org/10.5935/1676-2444.20170035 linkcopy

Hereditary hemochromatosis: study of laboratory alterations related to polymorphism

Hemocromatose hereditária: estudo de alterações laboratoriais relacionadas com polimorfismos

Authorship SCIMAGO INSTITUTIONS RANKINGS

ABSTRACT

Introduction: Hereditary hemochromatosis (HH) is an inherited condition associated with excessive iron storage. Its strong presence is underestimated because patients are asymptomatic. In the city of Caxias do Sul (RS), due to the higher frequency of the disease, it is necessary to perform a study that relates the HH genotypes to laboratory analyses.

Objective: The objective of this study was to evaluate the association of the C282Y, H63D and S65C polymorphisms and laboratory markers in the study cases.

Methods: The study was carried out based on the analysis of medical records from 283 patients assisted from January 2010 to January 2013, older than 18 years of age, who performed the genotyping protocol for HH and laboratory exams. The analysis of markers between genotype and laboratory exams was performed by the SPSS20.0 software.

Results: The most frequent genetic alterations were in H63D/WT 84 (31%) and C282Y/WT 17 (6.2%). The most compatible genotype for HH was C282Y/C282Y, even though it did not show significant results. The elevated serum ferritin level was slightly higher (p < 0.05) in the study groups, and all of them were above the reference value. We observed in C282Y/C282Y and H63D/C282Y genotypes an insignificant increase in mean corpuscular volume (MCV) and in mean corpuscular hemoglobin (MCH).

Conclusion: According to the study, it was possible to observe a significant elevated serum ferritin level in all HH genotypes.

Key words: hemochromatosis; genetic polymorphism; genotype

Genotypes	Incidence	%	GGT	GLU	TSI	AST	ALT	LDH	Ir	FER	RBC	Hb	Hct	MCV	MCH	MCHC	LEU
Normal	148	54.4	64.39	97.98	39.08	30.04	45.89	174	134	731	4.9	15.07	44.34	90.58	30.69	34.01	6602
Heterozygous for H63D	84	30.9	69.34	102.26	50.64	26.73	37.6	185.2	122.4	813.81	4.85	14.9	43.64	90.02	30.63	34.17	6838
Heterozygous for C282Y	17	6.2	46.6	97.56	42.32	29.67	34.67	166.37	169.5	558.09	4.7	14.47	43	91.31	30.71	33.64	7480
Heterozygous for S65C	6	2.2	45	95.8	45.67	39.6	73.4	-	152.5	926.8	5.33	15.7	46.96	88.05	30.55	34.1	5770
Homozygous for H63D	7	2.6	45.2	94	46	25	25	153	155.5	1011.25	5.35	15.92	46.67	91.44	28.71	31.4	5720
Homozygous for C282Y	3	1.1	69	92	87	73.3	113	-	235.5	1461.67	4.45	14.9	44.06	99.17	33.52	33.81	6103
Heterozygous for H63D/ heterozygous for C282Y	5	1.8	113	116.5	48.8	25	22.5	161	-	645	5.3	16.9	49.05	92.24	37.79	34.48	7730
Heterozygous for C282Y/ heterozygous for S65C	1	0.4	29	95	54.8	24	34	158	94	573	4.54	13.5	40.6	89.43	29.74	33.29	6120
Heterozygous for S65c/ heterozygous for H63D	1	0.4	21	102	34.6	24	34	-	-	1171	5.38	15.8	47.4	86.5	28.83	33.33	6660

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Sociedade Brasileira de Patologia Clínica, Rua Dois de Dezembro,78/909 - Catete, CEP: 22220-040v - Rio de Janeiro - RJ, Tel.: +55 21 - 3077-1400 / 3077-1408, Fax.: +55 21 - 2205-3386 - Rio de Janeiro - RJ - Brazil
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[TFN1] Reference values: GGT: M 10-50 U/l, W 7-32 U/l; GLU: 70-99 mg/dl; TSI: 20%-45%; AST: < 40 Ul/l; ALT: < 40 Ul/l; LDH: 100-190 E4:V18; Ir: 30-160 micrograms/dl; FER: M 12-300 ng/ml, W 12-150 ng/ml; RBC: M 5.3 ± 3 g/dl, W 13.6 ± 2.5 g/dl; Hb:12-15 g/dl; Hct: M 47 ± 7, W 42 ± 6; MCV: M/W 82-98 Fl; MCH: M/W 31-36 g/dl; MCHC: 30-35 g/dl; LEU: 5,000 10,000.

GGT: gamma-glutamyl transferase; GLU: glucose; TSI: transferrin saturation index; AST: aspartate aminotransferase; ALT: alanine aminotransferase; LDH: lactate dehydrogenase; Ir: iron; FER: ferritin; RBC: red blood cells; Hb: hemoglobin; Hct: hematocrit; MCV: mean corpuscular volume; MCH: mean corpuscular hemoglobin; MCHC: mean corpuscular hemoglobin concentration; LEU: total leukocytes; M: man; W: woman.