Prevalence of β<sup>S</sup>-globin gene haplotypes, α-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Paraná, Brazil

Shimauti, Eliana LitsukoTomimatsu; Silva, Danilo Grunig Humberto; Souza, Eniuce Menezes de; Almeida, Eduardo Alves de; Leal, Francismar Prestes; Bonini-Domingos, Claudia Regina

doi:10.1590/S1415-475738320140231

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Human and Medical Genetics • Genet. Mol. Biol. 38 (3) • July-Sept 2015 • https://doi.org/10.1590/S1415-475738320140231 copy

Prevalence of β^S-globin gene haplotypes, α-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Paraná, Brazil

Authorship SCIMAGO INSTITUTIONS RANKINGS

The aim of this study was to determine the frequency of beta S-globin gene (β^S globin) haplotypes and alpha thalassemia with 3.7 kb deletion (−α^3.7kb thalassemia) in the northwest region of Paraná state, and to investigate the oxidative and clinical-hematological profile of β^S globin carriers in this population. Of the 77 samples analyzed, 17 were Hb SS, 30 were Hb AS and 30 were Hb AA. The β^Sglobin haplotypes and −α^3.7kb thalassemia were identified using polymerase chain reaction.Trolox equivalent antioxidant capacity (TEAC) and lipid peroxidation (LPO) were assessed spectophotometrically. Serum melatonin levels were determined using high-performance liquid chromatography coupled to coulometric electrochemical detection. The haplotype frequencies in the SS individuals were as follows: Bantu- 21 (62%), Benin - 11 (32%) and Atypical- 2 (6%). Bantu/Benin was the most frequent genotype. Of the 47 SS and AS individuals assessed, 17% (n = 8) had the −α^3.7kb mutation. Clinical manifestations, as well as serum melatonin, TEAC and LPO levels did not differ between Bantu/Bantu and Bantu/Benin individuals (p > 0.05). Both genotypes were associated with high LPO and TEAC levels and decreased melatonin concentration. These data suggest that the level of oxidative stress in patients with Bantu/Bantu and Bantu/Benin genotypes may overload the antioxidant capacity.

antioxidants; hemoglobinopathies; melatonin; sickle cell disease; thalassemia

Genotypes	αα/αα N (%)	−α/αα N (%)	−α/−α N (%)	N
SS	14 (82.4)	2 (11.8)	1 (5.8)	17
AS	25 (83.3)	5 (16.7)	0	30
Total	39 (83.0)	7 (14.9)	1 (2.1)	47

Chromosomes	N (%)	Haplotypes	N (%)
Bantu	21 (62)	Bantu/Bantu	6 (35.3)
Benin	11 (32)	Bantu/Benin	7 (41.1)
Atypical	2 (6)	Benin/Benin	2 (11.8)
		Bantu/Atypical	2 (11.8)
Total	34 (100)	Total	17 (100)

Features	Hb SS (N = 17) Med (min–max)	Hb AS (N = 30) Med (min–max)	Hb AA (N = 30) Med (min–max)
Age	22(10–39)	37(14–53)	27(11–55)
TBARS (ng/mL)	863.4^a(496.8–2203)	470.6^b(280.8–2796.1)	485^b(270.2–676.3)
TEAC (mM)	2.00^a(1.86–2.10)	1.9^b(1.7–2.0)	1.9^b(1.7–2.0)
Melatonin (pg/mL)	42.6^a(9.63–234.9)	116.2^b(6.63–633.8)	146^b(39.9–671.6)
Hb (g/dL)	7.6^a(5.9–9.7)	12.4^b(10.0–15.1)	13.7^b(11.5–15.4)
MCV (fL)	96.8^a(79.5–121.9)	84.8^b(76.0–94.0)	86.5^b(82–91.4)
MCH (pg)	31.2^a(24.8–40.4)	27.6^b(24.2–31)	28.5^b(27–30.1)
MCHC (%)	32.6^a(31–35.6)	32.8^a(31–34)	33.4^a(31.2–34.5)
Reticulocytes (%)	14.8 ± 8.8(6.3–36.9)	-	-
Leukocytes (×10⁹/L)	12,600^a(8,600–18,800)	7,650^b(4,300–10,900)	6,550^b(3,800–10,500)
Neutrophils (×10⁹/L)	6,090^a(4,472–11,280)	4,002^b(2,250–6,534)	3,454^b(1,504–7,144)
Monocytes (×10⁹/L)	0.725^a(0.172–2256)	0.3585^b(0.138–0.830)	0.334^b(0.86–0.735)
Hb Fetal (%)	10.2^a(3.8–24.2)	0.0(0.0–3.0)	2.15^c(0.0–2.6)
Hb S (%)	83.5^a(55.3–93.9)	36.6^b(28.7–40.5)	0.0
Hb A (%)	0.0(0–33)	58.9^a(55–65.5)	95.4^b(95–97.6)

Features	Bantu/Bantu (N = 6)	Bantu/Benin (N = 7)	p
TBARS (ng/mL)	910.9(496.8–1970)	842.3(635.5–2,203)	NS
TEAC (mM)	2.0(2.0–2.1)	1.9(1.9–2.1)	NS
Melatonin (pg/mL)	44.8(17–164)	39.2(9.63–74.1)	NS
Hb (g/dL)	8.1(6.4–9.7)	7.6(5.9–9.0)	NS
MCV (fL)	102.7(89.1–118.6)	92.9(79.5–121.9)	NS
MCH (pg)	34.4(28.2–38.3)	30.2(24.8–40.4)	NS
MCHC (%)	32.4(31–35.6)	33.2(31.2–34.7)	NS
Reticulocytes (%)	13.4(7.3–36.9)	11.2(6.3–28.6)	NS
Hb F (%)	9.5(3.8–15.9)	14.3(1.2–24.2)	NS
Hb S (%)	85.1(55.3–89.0)	81.7(71.7–93.9)	NS
Leukocytes (×10⁹/L)	12,150(8,800–18,800)	13,100(8,600–15,500)	NS
Neutrophils (×10⁹/L)	6,894(4,536–11,092)	5,633(4,386–8,370)	NS
Monocytes (×10⁹/L)	1,202(0.54–2,256)	0.655(0.172–1,085)	0.03

	BAN/BEN+BAN/BAN (n = 13) Med (min–max)	Hb AA (n = 30) Med (min–max)	p
TEAC (mM)	2.0 (1.9–2.1)	1.9 (1.7–2.0)	0.002
Melatonin (pg/mL)	42.6 (9.6–164)	146.5 (39.9–671.6)	0.007
TBARS (ng/mL)	842.3 (496.8–2203)	485.0 (270.2–676.3)	< 0.001

	BAN/BAN (n = 6) (%)	BAN/BEN (n = 7) (%)	p	SS/−α^3.7 (n = 3) (%)	SS/(αα/αα) (n = 14) (%)	p
Leg ulcers	0	14.3	-	33.3	0	-
Pneumonia	16.6	14.3	NS	33.3	25	NS
Splenectomy	16.6	28.5	NS	33.3	28.5	NS
Cholecystectomy/ cholelithiasis	16.6	42.8	NS	33.3	28.5	NS
Pleural effusion	16.6	0	-	0	7.1	-
Acute thoracic syndrome	0	0	-	0	7.1	-
Cardiac complications	33.3	57.1	NS	66.7	35.7	NS
Osteonecrosis	33.3	14.3	NS	0	28.5	-
Osteomyelitis	0	16.6	-	0	7.1	-
Joint/muscle pain	50	57.1	NS	66.7	50	NS
Urinary infection	16.6	0	-	0	7.1	-
HU use	66.6	28.6	NS	0	64.2	NS

Sociedade Brasileira de Genética Rua Cap. Adelmio Norberto da Silva, 736, 14025-670 Ribeirão Preto SP Brazil, Tel.: (55 16) 3911-4130 / Fax.: (55 16) 3621-3552 - Ribeirão Preto - SP - Brazil
E-mail: editor@gmb.org.br

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[1] Send correspondence to Eliana L.T. Shimauti. Departamento de Análises Clínicas e Biomedicina, Universidade Estadual de Marin-gá, Av. Colombo 5.790, Jardim Universitário, 87020-900, Maringá, PR, Brazil. E-mail: eltshimauti@uem.br.

Leukocytes (x10⁹/L)	12,600^a(8,600-18800)	7,650^b(4,300-10,900)	6,550^b(3,800-10,500)
Neutrophils (x10⁹/L)	6,090^a(4,472-1,1280)	4,002^b(2,250-6,534)	3,454^b(1,504-7,144)
Monocytes (x10⁹/L)	0.725^a(0.172-2256)

Leukocytes (x10⁹/L)	12.6^a(8.6-18.8)	7.65^b(4.3-10.9)	6.55^b(3.8-10.5)
Neutrophils (x10⁹/L)	6.09^a(4.472-1.128)	4.002^b(2.25-6.534)	3.454^b(1.504-7.144)
Monocytes (x10⁹/L)	0.725^a(0.172-2.256)

Leukocytes (x10⁹/L)	12,150(8,800-18,800)	13,100(8,600-15,500)	NS
Neutrophils (x10⁹/L)	6,894(4,536-11,092)	5,633(4,386-8,370)	NS
Monocytes (x10⁹/L)	1,202(0.54-2,2256)	0.655(0.172-1,085)	0.03

Leukocytes (x10⁹/L)	12.15(8.8-18.8)	13.1(8.6-15.5)	NS
Neutrophils (x10⁹/L)	6.894(4.536-11.092)	5.633(4.386-8.37)	NS
Monocytes (x10⁹/L)	1.202(0.54-2.2256)	0.655(0.172-1.085)	0.03

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Prevalence of βS-globin gene haplotypes, α-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Paraná, Brazil

Prevalence of β^S-globin gene haplotypes, α-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Paraná, Brazil