The Association of Hp 1 and Sickle Cell Disease

Ostrowski, Ronald S.; Travis, James C.; Talley, Elizabeth S.

doi:10.1159/000153700

Cited by 13 publications

(14 citation statements)

References 12 publications

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“…We determined the Hp phenotype in sickle cell diseases patients. The haptoglobin phenotype Hp1-1 frequency was high (77.3%) among sickle cell anaemia , and this agreed with the result of Ostrowski et al,1987, who found association of Hp1 and sickle cell disease. Patients with sickle cell anaemia usually die from malaria in tropical Africa, (Adeloye et al, 1971;Konotey et al,1971 ;Onwubalili, 1983).…”

Section: Resultssupporting

confidence: 86%

Is resistance to P. falciparum infection in sickle cell trait (AS) individuals is related to presence of high frequencies of haptoglobin Hp2-1?

Elagib¹,

Mirgani²

2013

AJSIR

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Sickle cell anemia is a haemoglobinpathy due to a single point mutation in the -chain of human haemoglobin. A hospital based case control study was done on the paediatric section in Khartoum Teaching hospital to investigate the role of haptoglobin phenotypes among sickle cell disease patients. A total number of 127 sickle disease patients and 34 healthy controls were screened for Hb phenotypes. Out of 88 homozygous sickle cell anaemia patients (HbSS), 77.3% patients had the Hp 1-1 phenotype, 22.7% had the Hp 2-1 phenotype, and none of them had Hp 2-2 type. Out of the 39 sickle cell trait (HbAS) individuals, 41% individuals had Hp1-1 phenotype, 59% had Hp2-1 phenotype and none of them had the Hp 2-2 phenotypes. Out of the 34 healthy controls (HbAA), 44% had Hp 1-1 phenotype, 38% had Hp 2-1 phenotype and 18% had Hp2-2 phenotype. There was a highly significant difference in the distribution of haptoglobin phenotypes among the three groups (P = 0.0001). The sickle cell trait (AS) had high frequency of Hp2-1. The sickle cell disease individuals (SS) had higher frequencies of Hp1-1. In conclusion, Malaria infection among the sickle cell homozygous (SS) individuals may be related to the high frequency of Hp1-1 and the protection of sickle cell trait (AS) against malaria infection may be due to the high frequency of haptoglobin phenotype 2-1.

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Section: Resultssupporting

confidence: 86%

Is resistance to P. falciparum infection in sickle cell trait (AS) individuals is related to presence of high frequencies of haptoglobin Hp2-1?

Elagib¹,

Mirgani²

2013

AJSIR

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“…Because of this polymorphism, the Hp gene is a prime candidate of investigation for any modulatory association with SCD pathophysiology or its subphenotypes. The only previous pertinent studies have been among American and Brazilian patients, for both of whom an association with the Hp 1-1 phenotype was reported [19,20] . The current study is the first among Arab and African SCD patients.…”

Section: Discussionmentioning

confidence: 99%

“…Hp 1-1 protects against atherosclerosis and other vascular complications of diabetes mellitus and is also protective in retinal hemorrhage [17,18] . There are two previous studies of Hp phenotypes in SCD, one from the USA [19] and the other from Brazil [20] , both of which reported a strong association with Hp 1-1 phenotype. Although there was no mention of the ␤ S -globin gene haplotypes in the patients, it is known that SCD in both populations is associated with haplotypes characterized by low Hb F. Moreover, the two groups of patients share similar ancestral histories, being descendants of Africans brought to the Americas as slaves.…”

Section: Introductionmentioning

confidence: 99%

Haptoglobin Gene Polymorphisms in Sickle Cell Disease Patients with Different β<sup>S</sup>-Globin Gene Haplotypes

Adekile

Haider²

2010

Med Princ Pract

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Objective: To investigate the prevalence of haptoglobin (Hp) gene alleles in Kuwaiti sickle cell disease (SCD) patients, who generally have a mild phenotype, and compare the pattern to Nigerian SCD patients whose SCD phenotype is more severe. Subjects and Methods: Hp genotyping was carried out in a group of 82 and 54 SCD patients from Kuwait and Nigeria, respectively, and appropriate Hb AA controls. The Hp genotyping was done using a PCR technique followed by agarose gel electrophoresis. Results: The frequency of the Hp-2 allele was 73.8% among Kuwaiti SCD patients, while the Hp-1 allele predominated among Nigerian patients (60.7%). However, the differences were not significant (p > 0.05) when the allele distributions were compared between Kuwaiti SCD and their AA counterparts or between Nigerian SCD and their AA controls. There was no association of Hp-2 allele with frequent vaso-occlusive crisis among the Kuwaiti SCD patients. Conclusion: The distribution of Hp alleles appears to follow ethnic and geographical trends. Their role in the pathophysiology of pain crisis is not clear.

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“…However, the physiological importance of these interactions and their implications in normal physiology and diseases are still not well understood. Nevertheless, the strong conservation of Hp gene and protein, and the association of different Hp phenotypes and hemolytic diseases such as sickle cell anemia 106 and malaria, [107][108][109][110][111] strongly suggest that Hp and hemoglobin interactions are physiologically important.…”

Section: Discussionmentioning

confidence: 99%

Role of haptoglobin in free hemoglobin metabolism

et al. 2001

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The Association of Hp 1 and Sickle Cell Disease

Abstract: The distribution of gene frequencies and types for haptoglobin (Hp) were studied in a normal black population and one with sickle cell disease. The statistical analysis of our findings indicated a significant association between sickle cell disease and the Hp 1 type.

Cited by 13 publications

References 12 publications

Is resistance to P. falciparum infection in sickle cell trait (AS) individuals is related to presence of high frequencies of haptoglobin Hp2-1?

Is resistance to P. falciparum infection in sickle cell trait (AS) individuals is related to presence of high frequencies of haptoglobin Hp2-1?

Haptoglobin Gene Polymorphisms in Sickle Cell Disease Patients with Different β<sup>S</sup>-Globin Gene Haplotypes

Role of haptoglobin in free hemoglobin metabolism

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