Bonemarrow Transplant

Symptoms may develop slowly or suddenly. Fatigue, frequent infections, rapid heart rate and bleeding may occur.

It is more frequent in people in their teens and twenties, but is also common among the elderly

Aplastic anemia can be caused by exposure to certain chemicals, drugs, radiation, infection, immune disease

Aplastic anemia is present in up to 2% of patients with acute viral hepatitis.

More frequently parvovirus B19 is associated with aplastic crisis which involves only the red blood cells (despite the name).

Aplastic anemia involves all different cell lines.

The cause of immunodeficiency varies depending on the nature of the disorder.

The cause can be either genetic or acquired by malnutrition and poor sanitary conditions.

Although there is no true discrimination to who this disease affects, the genes are passed from mother to child, and on occasion from father to child.

Available treatment falls into two modalities: treating infections and boosting the immune system.

Some deficiencies cause early mortality (before age one), others with or even without treatment are lifelong conditions.

Newer stem cell transplant technologies may lead to gene based treatments of debilitating and fatal genetic immune deficiencies.

The symptoms expressed would vary with the type of metabolic disorder.

There are four categories of symptoms: acute symptoms, late-onset acute symptoms, progressive general symptoms and permanent symptoms

Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an enzyme deficiency.

These diseases, of which there are many subtypes, are known as inborn errors of metabolism.

Metabolic diseases can also occur when the liver or pancreas do not function properly.

Metabolic disorders can be present at birth, and many can be identified by routine screening.

The genes responsible for a subset of IBMFS have been identified and will be reviewed.

Gene discovery in IBMFS has been difficult in large part due to the phenotypic heterogeneity of these syndromes.

Accurate diagnosis of IBMFS inform patient care as it allows appropriate screening of siblings to avoid choosing an affected donor if marrow transplant is indicated and the selection of an appropriate transplant conditioning regiment to avoid undue toxicity.

Additionally, accurate diagnosis allows appropriate medical monitoring and early intervention to successfully treat disease-specific non-hematologic medical complications.

The most common complications are iron overload in transfused patients and syndrome-specific malignancies in untransplanted patients,

The 4 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome.

Fanconi anemia can lead to serious complications such as bone marrow failure, which happens when the bone marrow stops making as many blood cells.

The most common test for Fanconi anemia is a blood test called a chromosomal breakage test.

Treatment for Fanconi anemia depends on your age and how well your bone marrow is making new blood cells.

FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair via homologous recombination.

Among those affected, the majority develop cancer, most often acute myelogenous leukemia, and 90% develop bone marrow failure (the inability to produce blood cells) .

FA is characterized by bone marrow failure, AML, solid tumors, and developmental abnormalities.

If a person has leukemia, their abnormal white blood cells do not die off in a normal cycle. Instead, the white blood cells multiply rapidly.

Eventually leaving less room for red blood cells required to carry oxygen through the body.

There are four main types of leukemia, classified according to their rate of growth and where the cancer originated in the body.

The types of leukemia include: acute lymphocytic leukemia, chronic lymphocytic leukemia, acute myeloid leukemia And chronic myeloid leukemia

Lymphoma starts in the immune system and affects the lymph nodes and lymphocytes, which are a type of white blood cell.

Cancer can affect all parts of the body, including the blood. Leukemia and lymphoma are types of blood cancer.

These irregularly shaped cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.

Sickle cells break apart easily and die, leaving you without enough red blood cells.

Red blood cells usually live for about 120 days before they need to be replaced. But sickle cells usually die in 10 to 20 days, leaving a shortage of red blood cells (anemia).

Periodic episodes of pain, called crises, are a major symptom of sickle cell anemia.

The pain varies in intensity and can last for a few hours to a few weeks. Some people have only a few pain episodes.

Sickle cells can damage an organ that fights infection (spleen), leaving you more vulnerable to infections.