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Diseases of the blood involving infants, children, and adolescents are commonly encountered by primary care physicians. Many hematologic problems are straightforward and, therefore, easy to diagnose and manage without involvement of a subspecialty consultant. Yet others are rare, serious, or even life threatening, representing complex diagnostic and management challenges. In such cases, engagement of a pediatric hematology-oncology subspecialist is recommended. The American Board of Pediatrics has certified more than 2000 practitioners in this subspecialty.

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For good reason, hematology and oncology have been combined as a single subspecialty discipline for several decades.1,2 One of the first recognizable conditions treated by children’s blood specialists was acute leukemia. As the principles of combination chemotherapy became clear during the 1960s, the drugs used to treat leukemia were also found to be effective in treating solid malignant tumors. Accordingly, it was (and still is) the hematology specialist who becomes skilled in these agents’ use in the care of leukemia and other cancer patients. Hematology-oncology thus became a combined specialty by the 1970s and has remained so from the standpoint of board certification. Nevertheless, the increasing complexity of the field during the past few decades has resulted in some practitioners focusing primarily in one clinical area (oncology) or the other (hematology), especially those working in large metropolitan areas where patient numbers justify this subsubspecialization. Hematology-oncology specialists tend to be concentrated in academic medical centers where they conduct clinical or laboratory research as well as teach and provide patient care. For years, the standard of care in childhood cancer has included these patients’ enrollment, if possible, in peer-reviewed multicenter research studies. More recent advances have also fostered clinical trial participation becoming accepted practice in children with nonmalignant hematologic conditions such as sickle cell disease and hemophilia.

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Most hematologic disorders encountered by pediatricians are mild, transient, and/or secondary to another acute or chronic illness. They are usually identified because of abnormalities in the blood count rather than by signs or symptoms specific to the hematologic condition. Nevertheless, some hematologic conditions are chronic, severe, and often familial in nature. Expertise in hematologic disorders during childhood thus requires a keen interest in and knowledge of genetics.

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Many diseases during childhood involve a specific organ, such as the heart, lungs, kidneys, or brain. Strictly speaking, the blood is not an organ but a liquid tissue that circulates throughout the body; thus, an abnormality can have diverse clinical consequences affecting many organs. The primary organ of the blood is the bone marrow cavity, where postnatally the majority of blood cells are produced. Other hematologic organs include the spleen and lymph nodes, which contain diverse antibody-producing cells and lymphocytes. The spleen is also a rich source of macrophages that remove senescent blood cells, bacteria, and other soluble and particulate matter from the bloodstream.

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Children with blood diseases may present with signs and/or symptoms thereof, but more commonly exhibit manifestations that are nonspecific or secondary to ...

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