Effects of alpha-thalassemia and sickle polymerization tendency on the urine-concentrating defect of individuals with sickle cell trait.

Gupta, Aakash; Kirchner, Kent A.; Nicholson, R; Adams, Joel C.; Schechter, AN; Noguchi, CT; Steinberg, Martin H.

doi:10.1172/jci115521

Cited by 70 publications

(62 citation statements)

References 42 publications

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“…The number of generated dense cells is low and the improved RBC deformability improves flow through the microvasculature. It is therefore not surprising that improved spleen and renal function have been noticed in such patients [8, 22]. The less tendency to gallstone formation noticed in the present study is probably due to the reduced rate of hemolysis as supported by the significantly higher level of Hb in the group with coexistent α-thalassemia.…”

Section: Discussionsupporting

confidence: 65%

Influence of α-Thalassemia on Cholelithiasis in SS Patients with Elevated Hb F

Haider¹,

Ashebu²,

Aduh³

et al. 1998

Acta Haematol

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Chronic hemolysis, with consequent hyperbilirubinemia, predisposes SS patients to pigment gallstones. The other factors which influence the development of stones in these patients have not been identified. We have carried out a combined prospective and retrospective study of SS patients in Kuwait and specifically investigated the influence of coexistent α-thal trait on the prevalence of gallstones. A total of 45 patients (30 males, 15 females) with ages ranging from 1 to 16 years (mean 7.2 ± 3.1) were studied. Most were either homozygotes for the Saudi Arabia/India haplotype (86.7%) or compound heterozygotes for this and the Benin haplotype (11.1%). They were screened for gallstones with ultrasonography. α-Globin genotypes were determined using a combination of PCR and allele-specific oligonucleotide hybridization techniques to identify the common α-thalassemia alleles in this population. Gallstones were detected in 7 (15.6%) patients (4 males, 3 females), whose mean age (10.5 ± 5.5 years) was significantly higher than that (6.8 ± 3.2 years) of those without stones (p < 0.01). The mean total Hb of the former (8.4 ± 0.8 g/dl) was also significantly (p < 0.05) lower than in the latter (9.5 ± 1.3 g/dl), while the difference in mean Hb F levels was not significant. None of the 4 α-thal homozygotes had gallstones while 2 of 13 heterozygotes and 5 of the 23 patients without coexistent α-thal had. The differences in these proportions are statistically significant (χ² = 20.4, p < 0.001). It therefore appears that coexistent α-thal decreases the chance of developing gallstones in Arab SS patients. This may be related to less hemolysis in such patients as shown by their higher mean Hb level.

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Section: Discussionsupporting

confidence: 65%

Influence of α-Thalassemia on Cholelithiasis in SS Patients with Elevated Hb F

Haider¹,

Ashebu²,

Aduh³

et al. 1998

Acta Haematol

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“…[11] Patients with sickle cell trait might also be more at risk of severe dehydration due to inherent inability to adequately concentrate their urine and conserve water. [19] Hypercoagulability states have been described in sickle cell trait, though of less severity compared to hemoglobin SS. Systemic micro-particles, proteins C and S, endothelin-1 (ET-1), thrombin-antithrombin (TAT) complexes, prothrombin fragment 1.2 (F1.2), absolute blood monocyte levels and adrenomedullin (ADM) have been described as markers of hypercoagulable states in sickle cell disease.…”

Section: Discussion and Literature Reviewmentioning

confidence: 99%

Severe non-exertional rhabdomyolysis from weight loss supplement in sickle cell trait: A perfect storm?

Olanipekun

Effoe

Adeogun

et al. 2018

CRIM

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Exertional rhabdomyolysis from sickle cell trait has been documented. Also, cases of rhabdomyolysis from the use of weight loss supplements in the setting of sickle cell trait and exertion have been described. However, the role of sickle cell trait in non-exertional rhabdomyolysis is not clear. We present a case of severe non-exertional rhabdomyolysis from weight loss supplement in a patient with sickle cell trait.A 45-year-old African American female with sickle cell trait presented to the emergency department with two days history of fatigue and mild breathlessness. She also reported diarrhea and vomiting for five days before presentation. She admitted to taking Garcinia cambogia (a dietary supplement) for weight loss one week prior to the onset of symptoms. She denied alcohol or drug use, rigorous physical activity or trauma.She was dehydrated on examination. Laboratory values revealed markedly elevated serum creatine phosphokinase (CPK) and creatinine levels. Garcinia cambogia was discontinued and she was hydrated with intravenous fluids. Her CPK and creatinine levels significantly trended down and she was discharged home with no apparent sequelae.Our patient had multiple episodes of diarrhea and vomiting likely from the use of Garcinia cambogia. We believe she suffered non-exertional rhabdomyolysis from dehydration in the setting of sickle cell trait. Though dietary weight loss supplements are marketed as generally safe, this case suggests otherwise. We emphasize that clinicians routinely inquire about use of these supplements and provide appropriate counseling to patients on the adverse effects, especially among those with sickle cell trait.

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“…There are insufficient data on the influence of a-thalassemia on sickle cell renal disease, except in sickle celltrait bearers, where coinheritance seems to have a protective effect against loss of urinary-concentrating ability [133]. The inheritance of the Bantu haplotype has been associated with worse renal function, supposedly because of the lower HbF levels found in this haplotype [134].…”

Section: Renal Impairmentmentioning

confidence: 99%