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delta chain disease
ICD-10 Codes
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Description
Delta chain disease, also known as heavy chain disease, is a rare disorder characterized by an overproduction of monoclonal immunoglobulin heavy chains. This condition results from the abnormal proliferation of plasma cells that produce excessive amounts of IgD antibodies.
- The overproduction of delta antibody (IgD) leads to the accumulation of abnormal proteins in the body, causing various symptoms [6][7].
- Delta chain disease is a type of heavy chain disease, which is a group of disorders characterized by the production of abnormal immunoglobulin heavy chains [4][5].
- This condition can affect different parts of the body, including the immune system and gastrointestinal tract [9].
Delta chain disease is often associated with other conditions, such as thalassemia, sickle cell disease, and hemoglobinopathies. These disorders are characterized by abnormalities in hemoglobin synthesis, which can lead to various complications.
- The thalassemias, sickle cell disease, and other hemoglobinopathies represent a major group of inherited disorders of hemoglobin synthesis [8].
- These conditions can have similar symptoms and complications as delta chain disease, making accurate diagnosis crucial for effective treatment.
Delta chain disease is a rare condition that requires specialized medical attention. Accurate diagnosis and treatment are essential to manage the symptoms and prevent further complications.
Citations: [4] - Context 3 [5] - Context 5 [6] - Context 6 [7] - Context 7 [8] - Context 8 [9] - Context 9
Additional Characteristics
- Heavy chain disease
- Delta chain disease
- Diseases characterized by abnormal immunoglobulin heavy chains production
- Inherited disorders of hemoglobin synthesis (thalassemias, sickle cell disease, and hemoglobinopathies)
Signs and Symptoms
Delta Chain Disease (Beta-Thalassemia) Signs and Symptoms
Delta-beta-thalassemia, a form of beta-thalassemia, is characterized by decreased or absent synthesis of the delta- and beta-globin chains. This condition can lead to various signs and symptoms, including:
- Anemia: A decrease in red blood cells or hemoglobin, leading to fatigue, pale skin, and shortness of breath [1].
- Feeding problems: Infants with delta-beta-thalassemia may experience difficulty feeding due to poor appetite and vomiting [4].
- Diarrhea: Some individuals may develop diarrhea as a symptom of this condition [4].
- Irritability: Irritability and restlessness are common in children with delta-beta-thalassemia [4].
- Recurrent bouts of fever: Fever can occur due to infections or other complications related to the condition [4].
- Difficulty swallowing (dysphagia): Some individuals may experience difficulty swallowing food, which can lead to poor nutrition and weight loss [6].
- Enlarged liver and spleen: The liver and spleen may become enlarged due to the accumulation of red blood cells and other factors [6].
- Bone problems: Individuals with delta-beta-thalassemia may develop bone-related issues, such as osteoporosis or bone pain [8].
It's essential to note that these symptoms can vary in severity and may not be present in all individuals with delta-beta-thalassemia. If you suspect you or a loved one has this condition, consult a healthcare professional for proper diagnosis and treatment.
References:
[1] Context 1 [4] Context 4 [6] Context 6 [8] Context 8
Additional Symptoms
- Difficulty swallowing (dysphagia)
- Feeding problems
- Bone problems
- Enlarged liver and spleen
- anemia
- diarrhea
- irritability
- obsolete recurrent fever
Diagnostic Tests
Delta chain disease, also known as alpha-thalassemia, is a genetic disorder that affects the production of the alpha-globin chains of hemoglobin. Diagnostic tests for this condition are crucial in confirming the diagnosis.
Laboratory Testing
The diagnosis of alpha-thalassemia is typically established through laboratory testing, which includes:
- Red Cell Indices: A significant elevation of HbF (fetal hemoglobin) levels, ranging from 5-15% in heterozygotes, can indicate delta chain disease [1].
- Hemoglobin Electrophoresis: This test separates and identifies different types of hemoglobin in the blood. It is often used to diagnose alpha-thalassemia and other hemoglobinopathies [3].
- High-Performance Liquid Chromatography (HPLC): HPLC can also be used to measure the levels of various hemoglobins, including HbF, in the blood [6].
Other Diagnostic Tests
In some cases, additional tests may be necessary to confirm the diagnosis:
- Bone Marrow Examination: This test is not typically required for alpha-thalassemia but can be useful in diagnosing other conditions that may present with similar symptoms.
- DNA Mutation Testing: Molecular characterization and PCR detection can help identify specific mutations associated with delta chain disease [7].
Key Points
- Delta chain disease is a genetic disorder affecting the production of alpha-globin chains of hemoglobin.
- Laboratory testing, including red cell indices and hemoglobin electrophoresis, is crucial in confirming the diagnosis.
- HPLC can also be used to measure levels of various hemoglobins, including HbF.
References:
[1] Context 1 [3] Context 3 [6] Context 6 [7] Context 7
Additional Diagnostic Tests
- Red Cell Indices
- Hemoglobin Electrophoresis
- High-Performance Liquid Chromatography (HPLC)
- Bone Marrow Examination
- DNA Mutation Testing
Treatment
Treatment Options for Delta Chain Disease
Delta chain disease, also known as delta-beta-thalassemia, is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains. While there are various treatment options available, drug treatment plays a crucial role in managing this condition.
- Blood Transfusions: Regular blood transfusions are often necessary to alleviate anemia and prevent complications associated with delta chain disease [5].
- Iron-Chelation Therapy: Iron-chelation therapy is essential to remove excess iron from the body, which can accumulate due to frequent blood transfusions [8].
- Corticosteroids and Cytotoxic Medications: Corticosteroids and cytotoxic medications may be used to manage symptoms and slow disease progression in some cases [1].
Personalized Treatment Plans
It's essential to note that treatment plans for delta chain disease are often tailored to individual patients, taking into account their specific medical history, symptoms, and disease severity. Practitioners refer to the latest research and standards of care to develop personalized treatment strategies for each patient [11].
While these treatment options can help manage delta chain disease, it's essential to work closely with a healthcare provider to determine the best course of action.
References: [1] Merck Manuals - Medical Professional Version [5] Search Result 5 [8] Search Result 8
Recommended Medications
- Blood Transfusions
- Iron-Chelation Therapy
- Corticosteroids and Cytotoxic Medications
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Delta Chain Disease, also known as Delta-Beta Thalassemia, requires a differential diagnosis to rule out other conditions that may present with similar symptoms.
The differential diagnosis for delta chain disease includes:
- Homozygous Hereditary Persistence of Fetal Hemoglobin (HPFH): This condition is characterized by the persistence of fetal hemoglobin in adults, which can lead to similar anemia and hematological abnormalities as delta chain disease [3].
- Iron Deficiency Anemia: Mild-to-moderate anemia of thalassemia minor or intermedia must be distinguished from iron deficiency anemia, especially in children and adolescents [2].
- Alpha Thalassemia Intermedia (Hemoglobin H Disease): This condition causes hemolytic anemia and can present with similar symptoms to delta chain disease [4].
Key factors to consider in the differential diagnosis of delta chain disease include:
- Genetic testing: Measuring the alpha-beta chain synthesis ratio or performing genetic tests of the alpha-globin cluster can help confirm the diagnosis [1].
- Hematological parameters: Low MCV, low MCHC, and high normal to elevated hemoglobin levels may be present in delta chain disease, similar to other thalassemia syndromes [9].
References:
[1] Context 1 [2] Context 2 [3] Context 3 [4] Context 4 [9] Context 9
Additional Differential Diagnoses
- Homozygous Hereditary Persistence of Fetal Hemoglobin (HPFH)
- Alpha Thalassemia Intermedia (Hemoglobin H Disease)
- iron deficiency anemia
Additional Information
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- A heavy chain disease that results from an overproduction of delta antibody (IgD).
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.