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A group of hereditary bleeding disorders characterized by
a deficiency of one of the factors necessary for coagulation
of the blood. The two most common forms of the disorder are
hemophilia A and hemophilia B. Hemophilia A (classic hemophilia)
is the result of a deficiency or absence of antiheomphilic
factor VII. Hemophilia B (Christmas Disease) represents a
deficiency of plasma thromboplastin component. The clinical
severity of the disorder varies with the extent of the deficiency.
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A decrease in hemoglobin in the blood to levels below the
normal range. Anemia may be caused by a decrease in red cell
production, an increase in red cell destruction, or a loss
of blood. A morphologic classification system describes anemia
by the hemoglobin content of the red cells (normochromic
or hypochromic) and by differences in red cell size (marocytic,
normocytic, or microcytic). Also spelled anaemia.
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The homozygous form of this anemia is evident in infancy,
is recognized by sever anemia, failure to thrive with hematosplenomegaly,
and is confirmed by characteristically small red blood cells
and genetic mutations in hemoglobin synthesis. Frequent transfusions
are necessary to maintain oxygen-carrying capacity of the
blood, which results in progressive iron accumulation since
the body is unable to excrete excess iron. Red cells are
rapidly destroyed. The iron is also deposited in the heart,
liver, and pancreas, which become fibrotic and dysfunctional.
The spleen and liver may become enlarged. Headaches, abdominal
pain, and fatigue often occur. Select few are cured by Bone
Marrow Transplantation.
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A severe chronic hemoglobinopathy condition that occurs
in people homozygous for hemoglobin S. The abnormal hemoglobin
results in distortion and fragility of the erythrocytes.
Sickle cell anemia is characterized by crises of joint pain,
thrombosis, fever, chronic anemia, splenomegaly, lethargy,
and weakness.
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Any group of health conditions caused by a defect in the
immune system and generally characterized by susceptibility
to infections and chronic diseases. The diseases are sometimes
classified as B cell (antibody) deficiencies, T cell (cellular)
deficiencies, combined T and B cell deficiencies of cell
movements, and defects of microbicidal activity.
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A reduction in the number of platelets. There may be decreased
production of platelets, decreased survival of platelets,
and increased consumption of platelets or splenomegaly. Thrombocytopenia
is the most common cause of bleeding disorders. Bleeding
is usually from small capillaries. Treatment requires a specific
diagnosis of the cause. All drugs are stopped because nearly
any drug may cause the condition. Adrenal corticoisteroids
and transfusion may be necessary.
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A congenital hereditary neoplasm developing from retinal
germ cells. Characteristic signs are diminished vision, strabismus,
retinal detachment, and an abnormal pupillary reflex. The
rapidly growing tumor may invade the brain and metastasize
to distant sites. Treatment may include removal of the eye
and as much of the optic nerve as possible, followed by radiation
and chemotherapy.
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A malignant neoplasm of the kidney occurring in young children
before the fifth year in 75% of the cases. The most frequent
early signs are hypertesopm, a palpable mass, pain and hematuria.
Diagnosis can be established by an excretory program with
tomography. The tumor, an embryonal adenomyosacroma, is well
encapsulated in the early stage, but it may extend into lymph
nodes, the renal vein, or the vena cava and metastasize to
the lungs or other sites. Removal of resectable tumors by
transperitoneal nephrectomy is recommended. Radiotherapy
is used before or after surgery or palliatively in inoperable
cases. Chemotherapy combined with surgery and irradiation
is proving highly effective.
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This information does not take the place of medical advice,
diagnosis, or treatment from your health care provider. The
Children's Cancer and Blood Foundation does not suggest that
this resource should be your only source of information and
education on these topics. Always seek the advice of your
physician or other qualified health care provider with any
questions you have about a medical condition.
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