I 
108TH CONGRESS 
1ST SESSION H. R. 2456
To require increased activities by the National Institutes of Health and 
the Centers for Disease Control and Prevention regarding Diamond-
Blackfan anemia, and for other purposes. 
IN THE HOUSE OF REPRESENTATIVES 
JUNE 12, 2003
Mrs. MCCARTHY of New York (for herself and Mr. QUINN) introduced the 
following bill; which was referred to the Committee on Energy and Commerce 
A BILL 
To require increased activities by the National Institutes 
of Health and the Centers for Disease Control and Pre-
vention regarding Diamond-Blackfan anemia, and for 
other purposes.
Be it enacted by the Senate and House of Representa-
tives of the United States of America in Congress assembled,
SECTION 1. SHORT TITLE. 
This Act may be cited as the ‘‘Diamond-Blackfan 
Anemia Research and Care Act’’. 
SEC. 2. FINDINGS. 
The Congress finds as follows:
(1) Diamond-Blackfan anemia is a rare genetic 
bone marrow failure disorder, which develops in in-
fancy and results in severe anemia due to failure to 
make red blood cells. 
(2) Diamond-Blackfan anemia patients have an 
increased risk of leukemia, solid tumors, and com-
plete bone marrow failure. 
(3) Fifty percent of patients with Diamond-
Blackfan anemia are born with birth defects, includ-
ing abnormalities to the face, head, upper arm and 
hand, genitourinary, and heart, and 21 percent of 
the affected patients have more than 1 defect. 
(4) Treatments for Diamond-Blackfan anemia, 
including the use of blood transfusions and steroids 
such as prednisone, have potential long-term side ef-
fects, including osteoporosis, iron overload (because 
of the transfusions), and impaired growth (because 
of the steroids). 
(5) The only cure for Diamond-Blackfan ane-
mia is a bone marrow transplant, a procedure that 
carries serious risks and, since most patients lack an 
acceptable donor, is an option for only about 25 per-
cent of patients. 
(6) Because Diamond-Blackfan anemia is a ge-
netic disorder of red cell production and a cancer
predisposition syndrome with a high rate of con-
genital anomalies, the Federal investment regarding 
Diamond-Blackfan anemia must be expanded to 
allow the careful dissection of this disease, which will 
provide valuable insights into the biology of blood 
disorders and cancer predisposition and serve as an 
important model for understanding the genetics of 
birth defects. 
SEC. 3. DIAMOND-BLACKFAN ANEMIA. 
(a) DBA-RELATED ACTIVITIES OF NIH.—Part A of 
title IV of the Public Health Service Act is amended by 
inserting after section 404G (42 U.S.C. 283i) the fol-
lowing: 
‘‘DIAMOND-BLACKFAN ANEMIA 
‘‘SEC. 404H. (a) IN GENERAL.—The Director of 
NIH, in coordination with the Directors of the National 
Heart, Lung, and Blood Institute, the National Institute 
of Diabetes and Digestive and Kidney Diseases, and the 
Office of Rare Diseases, shall expand and intensify re-
search and related activities of the National Institutes of 
Health with regard to Diamond-Blackfan anemia. 
‘‘(b) COMPREHENSIVE RESEARCH INITIATIVE.—
‘‘(1) IN GENERAL.—In carrying out this sec-
tion, the Director of NIH shall make grants to, or 
enter into contracts with, public or private entities 
to support a comprehensive research initiative to
study, develop better treatments for, and ultimately 
find a cure for Diamond-Blackfan anemia. 
‘‘(2) 
RESEARCH.—The 
initiative 
supported 
under this subsection may include research on the 
following: 
‘‘(A) The links of Diamond-Blackfan ane-
mia to chronic diseases. 
‘‘(B) Red cell differentiation. 
‘‘(C) The pathophysiology of Diamond-
Blackfan anemia. 
‘‘(D) The relationship between Diamond-
Blackfan anemia and predisposition to cancer. 
‘‘(E) Congenital anomalies in Diamond-
Blackfan anemia patients.’’. 
(b) DBA-RELATED ACTIVITIES OF CDC.—Part B of 
title III of the Public Health Service Act (42 U.S.C. 243 
et seq.) is amended—
(1) by moving section 317R so that it follows 
section 317Q; and 
(2) by inserting after section 317R the fol-
lowing: 
‘‘SEC. 317S. REGISTRY AND CLINICAL CARE CENTER FOR 
DIAMOND-BLACKFAN ANEMIA. 
‘‘(a) REGISTRY.—The Secretary, acting through the 
Director of the Centers for Disease Control and Preven-
tion, shall maintain and expand the Diamond-Blackfan 
Anemia Registry (in this section referred to as the ‘Reg-
istry’). 
‘‘(b) COMPREHENSIVE CLINICAL CARE CENTER.—
‘‘(1) ESTABLISHMENT.—The Secretary, acting 
through the Director of the Centers for Disease 
Control and Prevention, shall establish a comprehen-
sive clinical care center for Diamond-Blackfan ane-
mia where a majority of the patients with the dis-
ease are examined, treated, and tracked through the 
Registry, by experts in the disease. 
‘‘(2) DUTIES.—The center established under 
this section shall—
‘‘(A) gather and analyze extensive data on 
Diamond-Blackfan anemia to be used for pub-
lic, non-profit, and government research initia-
tives involving gene discovery, ribosomal protein 
function, genetics of birth defects, blood cell 
formation (recovery from cancer chemotherapy), 
cancer predisposition, red cell differentiation, 
and a comparison of therapeutic treatments in-
cluding blood transfusion, steroids, and bone 
marrow transplants; 
‘‘(B) provide thorough examinations of Di-
amond-Blackfan anemia patients by experts in
the disease to confirm diagnosis and provide ge-
netic typing along with a multi-system evalua-
tion; and 
‘‘(C) provide clinical care for Diamond-
Blackfan anemia.’’.
Æ