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 DiamondBlackfan 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 Prevention regarding Diamond-Blackfan anemia, and for 

other purposes.

1 Be it enacted by the Senate and House of Representa2 tives of the United States of America in Congress assembled,

3 SECTION 1. SHORT TITLE. 

4 This Act may be cited as the ‘‘Diamond-Blackfan 

5 Anemia Research and Care Act’’. 

6 SEC. 2. FINDINGS. 

7 The Congress finds as follows: 
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1 (1) Diamond-Blackfan anemia is a rare genetic 

2 bone marrow failure disorder, which develops in in3 fancy and results in severe anemia due to failure to 

4 make red blood cells. 

5 (2) Diamond-Blackfan anemia patients have an 

6 increased risk of leukemia, solid tumors, and com7 plete bone marrow failure. 

8 (3) Fifty percent of patients with Diamond9 Blackfan anemia are born with birth defects, includ10 ing abnormalities to the face, head, upper arm and 

11 hand, genitourinary, and heart, and 21 percent of 

12 the affected patients have more than 1 defect. 

13 (4) Treatments for Diamond-Blackfan anemia, 

14 including the use of blood transfusions and steroids 

15 such as prednisone, have potential long-term side ef16 fects, including osteoporosis, iron overload (because 

17 of the transfusions), and impaired growth (because 

18 of the steroids). 

19 (5) The only cure for Diamond-Blackfan ane20 mia is a bone marrow transplant, a procedure that 

21 carries serious risks and, since most patients lack an 

22 acceptable donor, is an option for only about 25 per23 cent of patients. 

24 (6) Because Diamond-Blackfan anemia is a ge25 netic disorder of red cell production and a cancer 
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1 predisposition syndrome with a high rate of con2 genital anomalies, the Federal investment regarding 

3 Diamond-Blackfan anemia must be expanded to 

4 allow the careful dissection of this disease, which will 

5 provide valuable insights into the biology of blood 

6 disorders and cancer predisposition and serve as an 

7 important model for understanding the genetics of 

8 birth defects. 

9 SEC. 3. DIAMOND-BLACKFAN ANEMIA. 

10 (a) DBA-RELATED ACTIVITIES OF NIH.—Part A of 

11 title IV of the Public Health Service Act is amended by 

12 inserting after section 404G (42 U.S.C. 283i) the fol13 lowing: 

14 ‘‘DIAMOND-BLACKFAN ANEMIA

15 ‘‘SEC. 404H. (a) IN GENERAL.—The Director of 

16 NIH, in coordination with the Directors of the National 

17 Heart, Lung, and Blood Institute, the National Institute 

18 of Diabetes and Digestive and Kidney Diseases, and the 

19 Office of Rare Diseases, shall expand and intensify re20 search and related activities of the National Institutes of 

21 Health with regard to Diamond-Blackfan anemia. 

22 ‘‘(b) COMPREHENSIVE RESEARCH INITIATIVE.—

23 ‘‘(1) IN GENERAL.—In carrying out this sec24 tion, the Director of NIH shall make grants to, or 

25 enter into contracts with, public or private entities 

26 to support a comprehensive research initiative to 
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1 study, develop better treatments for, and ultimately 

2 find a cure for Diamond-Blackfan anemia. 

3 ‘‘(2) RESEARCH.—The initiative supported 

4 under this subsection may include research on the 

5 following: 

6 ‘‘(A) The links of Diamond-Blackfan ane7 mia to chronic diseases. 

8 ‘‘(B) Red cell differentiation. 

9 ‘‘(C) The pathophysiology of Diamond10 Blackfan anemia. 

11 ‘‘(D) The relationship between Diamond12 Blackfan anemia and predisposition to cancer. 

13 ‘‘(E) Congenital anomalies in Diamond14 Blackfan anemia patients.’’. 

15 (b) DBA-RELATED ACTIVITIES OF CDC.—Part B of 

16 title III of the Public Health Service Act (42 U.S.C. 243 

17 et seq.) is amended—

18 (1) by moving section 317R so that it follows 

19 section 317Q; and 

20 (2) by inserting after section 317R the fol21 lowing: 

22 ‘‘SEC. 317S. REGISTRY AND CLINICAL CARE CENTER FOR 

23 DIAMOND-BLACKFAN ANEMIA. 

24 ‘‘(a) REGISTRY.—The Secretary, acting through the 

25 Director of the Centers for Disease Control and Preven-
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1 tion, shall maintain and expand the Diamond-Blackfan 

2 Anemia Registry (in this section referred to as the ‘Reg3 istry’). 

4 ‘‘(b) COMPREHENSIVE CLINICAL CARE CENTER.—

5 ‘‘(1) ESTABLISHMENT.—The Secretary, acting 

6 through the Director of the Centers for Disease 

7 Control and Prevention, shall establish a comprehen8 sive clinical care center for Diamond-Blackfan ane9 mia where a majority of the patients with the dis10 ease are examined, treated, and tracked through the 

11 Registry, by experts in the disease. 

12 ‘‘(2) DUTIES.—The center established under 

13 this section shall—

14 ‘‘(A) gather and analyze extensive data on 

15 Diamond-Blackfan anemia to be used for pub16 lic, non-profit, and government research initia17 tives involving gene discovery, ribosomal protein 

18 function, genetics of birth defects, blood cell 

19 formation (recovery from cancer chemotherapy), 

20 cancer predisposition, red cell differentiation, 

21 and a comparison of therapeutic treatments in22 cluding blood transfusion, steroids, and bone 

23 marrow transplants; 

24 ‘‘(B) provide thorough examinations of Di25 amond-Blackfan anemia patients by experts in 
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1 the disease to confirm diagnosis and provide ge2 netic typing along with a multi-system evalua3 tion; and 

4 ‘‘(C) provide clinical care for Diamond5 Blackfan anemia.’’.

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