Hepcidin Levels in Sickle Cell Disease (SCD)

NCT02258997 | Completed

• 1 other identifier: 13-2811
• Study Type: observational
• Target: 42
• Locations: 0 countries
• Sites: N/A

Brief Summary

The investigators propose that patients with HbSβ-thalassemia have lower levels of hepcidin and higher levels of GDF-15 than HbSS patients during the non-crisis, "steady states." In addition, the investigators propose that when controlled for RBC transfusion, patients with HbSβ-thalassemia will have higher levels of storage iron (based on serum ferritin). Participants: Total number of subjects is 42 - 21 subjects with HbSS, and 21 subjects with HbSβ-thalassemia ). Procedures (methods): Eligible subjects with documented SCD (HbSS, HbS-β 0-thalassemia or HbS-β+-thalassemia) followed at the University of North Carolina (UNC) Comprehensive Sickle Cell Program will be evaluated in this single-center, prospective, cross-sectional study. The patients will be screened for eligibility at the time of a routine sickle cell clinic visit. Patients' data will be obtained in person at the time of evaluation and through review of their medical records. Investigators will obtain information on SCD-related clinical complications and obtain an estimate of the number of lifetime RBC transfusions. Blood samples will be obtained for laboratory tests. Plasma samples for hepcidin, growth differentiation factor 15 (GDF -15), and high-sensitivity CRP will be stored at -80 degrees Celsius until analysis. Other routine laboratory studies including complete blood count (CBC) with differential and reticulocyte count, serum iron profile and ferritin, and liver function tests will be performed at the clinical laboratories of UNC Hospitals.The subjects will have 30 ml. of blood drawn for this research study. Females of child bearing potential will have a urine pregnancy test at the time of the study.

Conditions

Sickle Cell Anemia; Sickle - Beta Thalassemia

Keywords

sickle cell disease

Outcome Measures

Primary Outcomes (1)

• Hepcidin levels in HbSS and HbSβ-thalassemia SCD patients

  Assessed at time of enrollment

Secondary Outcomes (2)

• Levels of GDF-15 in HbSS and HbSβ-thalassemia SCD patients

  Assessed at time of enrollment

• Ferritin and C-reactive protein (CRP) levels in SCD patients in the non-crisis state

  Assessed at time of enrollment

Study Arms (2)

HbSS

Subjects are homozygous for the sickle hemoglobin mutation (HbS).

HbS-beta thalassemia

Subjects are heterozygous for the HbS mutation and beta thalassemia

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects will be recruited from the population followed in the Adult Sickle Cell Clinic with either HbSS or HbS-βthalassemia who meet the eligibility criteria for the study.

You may qualify if:

• age 18 - 70 years
• confirmed diagnosis of HbSS or HbS-β thalassemia
• no history of acute vaso-occlusive event (acute pain crisis or acute chest syndrome) requiring emergency room visit or hospitalization over the preceding 4 weeks
• clinically acceptable physical examination and vital signs
• ability of patient or legal representative to understand the requirements of the study and willingness to sign the Informed Consent document.

You may not qualify if:

• pregnancy or breastfeeding
• current acute illness, including a painful crisis
• iron deficiency anemia
• history of liver disease with alanine aminotransferase (ALT) ≥ 3 X upper limit of normal (ULN)
• history of hereditary hemochromatosis, connective tissues disease, chronic inflammatory, disorder, or malignancy
• chronic transfusion program or any transfusion within the previous 3 months

Sponsors & Collaborators

• Kenneth Ataga, MD: lead
• Augusta University: collaborator

Related Publications (4)

• Origa R, Galanello R, Ganz T, Giagu N, Maccioni L, Faa G, Nemeth E. Liver iron concentrations and urinary hepcidin in beta-thalassemia. Haematologica. 2007 May;92(5):583-8. doi: 10.3324/haematol.10842.

  PMID: 17488680 BACKGROUND

• Kattamis A, Papassotiriou I, Palaiologou D, Apostolakou F, Galani A, Ladis V, Sakellaropoulos N, Papanikolaou G. The effects of erythropoetic activity and iron burden on hepcidin expression in patients with thalassemia major. Haematologica. 2006 Jun;91(6):809-12.

  PMID: 16769583 BACKGROUND

• Camberlein E, Zanninelli G, Detivaud L, Lizzi AR, Sorrentino F, Vacquer S, Troadec MB, Angelucci E, Abgueguen E, Loreal O, Cianciulli P, Lai ME, Brissot P. Anemia in beta-thalassemia patients targets hepatic hepcidin transcript levels independently of iron metabolism genes controlling hepcidin expression. Haematologica. 2008 Jan;93(1):111-5. doi: 10.3324/haematol.11656.

  PMID: 18166793 BACKGROUND

• Ezeh C, Ugochukwu CC, Weinstein J, Okpala I. Hepcidin, haemoglobin and ferritin levels in sickle cell anaemia. Eur J Haematol. 2005 Jan;74(1):86-8. doi: 10.1111/j.1600-0609.2004.00337.x. No abstract available.

  PMID: 15613115 BACKGROUND

MeSH Terms

Conditions

Anemia, Sickle Cell

Condition Hierarchy (Ancestors)

Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemoglobinopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Kenneth I Ataga, MBBS

  University of North Carolina, Chapel Hill

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Associate Professor of Medicine, Director, University of North Carolina (UNC) Comprehensive Sickle Cell Program

Study Record Dates

• First Submitted: September 27, 2014
• First Posted: October 8, 2014
• Study Start: March 1, 2014
• Primary Completion: September 1, 2015
• Study Completion: September 1, 2015
• Last Updated: October 8, 2015

Record last verified: 2014-10