Protocol Number: 05-DK-0085

Title:

Clinical and Laboratory Investigation of Humans with Informative Iron or Erythroid Phenotypes

Number:

05-DK-0085

Summary:

This study will examine blood for factors that may cause or prevent diseases involving iron or red blood cells. Iron is an important nutrient for human health that is needed to produce red blood cells. Red blood cells carry oxygen to body tissues. A better understanding of iron and red blood cells may help lead to better treatment of several diseases including anemia.

Patients of all ages with red cell abnormalities in the following categories may be eligible for this study:

-Diseases with deficiency, overload or maldistribution of iron

-Known red blood cell diseases, such as anemias and hemoglobinopathies

-Red blood cell diseases of unknown cause, such as hemolysis of unknown cause

-Red blood cell abnormalities with no overt clinical disease, such as hereditary persistence of fetal hemoglobin

Participants undergo the following procedures:

- Medical history

- Physical examination

- Standard medical tests related to the individual's iron or red blood cell condition

Blood draw for the following purposes:

-Testing for syphilis and for the hepatitis B and C, HIV, and HTLV-1viruses, and for a pregnancy test for women who can become pregnant

-Research purposes. This blood is analyzed for genes, proteins, sugars, and fat molecules.

Sponsoring Institute:

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

A clinically definable iron or erythroid cell phenotype as defined by:

Group 1: Patients with known iron or erythroid diseases (example: iron deficiency anemia or ineffective erythropoiesis).

OR

Group 2: Patients with diseases of unknown etiology (example: unexplained iron overload or anemia).

OR

Group 3: Patients with an informative phenotype in the absence of overt clinical disease (example: hereditary persistence of fetal hemoglobin).

For adults: Ability to comprehend the investigational nature of the study and provide informed consent.

For minors: Written informed consent from one parent or guardian. Informed assent from minors: The process will be explained to the minor on a level of complexity appropriate for their age and ability to comprehend.

Women who are pregnant or breastfeeding are eligible to enroll in this protocol.

Age range: Birth to greater than 80 plus years. Unlimited

EXCLUSION CRITERIA:

Subjects who are unable to comprehend the investigational nature of the laboratory research are ineligible to enroll in this protocol.

Special Instructions:

Currently Not Provided

Keywords:

Hemoglobin

Hemoglobinapathies

Human Genome

Recombinant DNA Technology

Sequencing

Genotype

Phenotype

Erythrocyte

Erythroid

Lymphoblastoid Cell Line

Iron

Recruitment Keyword(s):

Hemoglobin

Erythrocyte

Condition(s):

Hemoglobinopathies

Hemolysis

Iron Deficiency and Overload

Anemias

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Institute of Diabetes and Digestive and Kidney Diseases

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Goh SH, Josleyn M, Lee YT, Danner RL, Gherman RB, Cam MC, Miller JL. The human reticulocyte transcriptome. Physiol Genomics. 2007 Jul 18;30(2):172-8. Epub 2007 Apr 3.

Gubin AN, Njoroge JM, Wojda U, Pack SD, Rios M, Reid ME, Miller JL. Identification of the dombrock blood group glycoprotein as a polymorphic member of the ADP-ribosyltransferase gene family. Blood. 2000 Oct 1;96(7):2621-7.

Gubin AN, Njoroge JM, Bouffard GG, Miller JL. Gene expression in proliferating human erythroid cells. Genomics. 1999 Jul 15;59(2):168-77.

Miller JL. Signaled expression of fetal hemoglobin during development. Transfusion. 2005 Jul;45(7):1229-32.

Goh SH, Lee YT, Bhanu NV, Cam MC, Desper R, Martin BM, Moharram R, Gherman RB, Miller JL. A newly discovered human alpha-globin gene. Blood. 2005 Aug 15;106(4):1466-72. Epub 2005 Apr 26.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Clinical Research Informatics, CC.

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