Skin and Blood Research Samples From Healthy Volunteers and Patients With Hematologic Diseases

Acquisition of Skin Biopsies and Blood Samples From Normal Volunteers and Patients With Benign, Inherited Hematologic Diseases for Research Purposes

The investigators plan to obtain skin and blood samples from healthy volunteers and patients with a benign, inherited hematologic disease to use for research to use homologous recombination to correct β-globin gene mutations in therapeutically useful cells, like autologous induced pluripotent stem cells from sickle cell anemia patients.

• To obtain skin biopsy samples from normal healthy volunteers and patients with a benign, inherited hematologic disease, such as sickle cell anemia, to create induced pluripotent stem cells. Pluripotency will be confirmed by injecting potential iPS cell lines into immunodeficient mice, assessing the ability of each line to cause cystic teratomas in recipient mice.
• To define the efficiency of homologous recombination in induced pluripotent stem cells derived from skin biopsy samples.
• To define the efficiency of homologous recombination in human embryonic stem cells using NIH-approved cell lines.
• To establish the genetic consequences of the derivation of human induced pluripotent cells in normal controls or patients with benign, inherited, hematologic diseases, by genomic analysis, including whole genome sequencing.
• To establish the genetic consequences of homologous recombination in human induced pluripotent stem cells and embryonic stem cells by genomic analysis, including whole genome sequencing.
• To obtain blood samples to confirm genetic mutations in patients with an inherited hematologic disease (and to confirm no mutations in healthy volunteers).

Inclusion Criteria:

• Age ≥ 18.
• No active systemic skin infection at biopsy site.
• No allergy to lidocaine or other local anesthetics

Exclusion Criteria:

ALL PATIENTS

• History of a bleeding disorder, easy bleeding, or bruising.
• Inability or unwillingness to provide informed consent.

SICKLE CELL PATIENTS

• Platelets ≤ 50,000
• INR ≥ 1.5
• Currently bing given intravenous heparin