OVERVIEW
Overview of hemoglobinopathies
Unstable hemoglobinopathy refers to a group of unstable hemoglobin due to changes in the amino acid composition of the α or β pearl protein chain, resulting in structural instability of hemoglobin, denaturation and precipitation, the formation of intraerythrocytic deformation of the pearl protein vesicles, called unstable hemoglobin. There are more than 100 types of unstable hemoglobins, which can cause hemolysis. The clinical manifestations of diseases caused by different unstable hemoglobins vary greatly.
Whether medical insurance
Yes
Department
Hematology
Clinical Symptoms
Dizziness, weakness, jaundice, hepatomegaly, splenomegaly, cyanosis, etc.
Hazards
May be complicated by infection, hemolytic crisis, etc., which may cause circulatory failure.
Complications
Infection, hemolytic crisis, etc.
Examination
Physical examination, blood routine, blood smear, heat denaturation test, isopropanol test, hemoglobin electrophoresis, oxygen dissociation curve examination.
Diagnosis
Diagnosis can be made on the basis of medical history, hemolytic manifestations and laboratory examination.
Treatment principle
There is no curative therapy, and symptomatic and supportive treatment is the mainstay. Infection or oxidizing drugs should be avoided.
Curability
Aggressive treatment may relieve symptoms.
Dietary recommendations
High-protein, high-vitamin, easily digestible diet.
Etiology
Etiology
Related to genetic factors, some patients show autosomal dominant inheritance, some patients’ gene mutation may be spontaneous somatic mutation.
Symptoms and Diagnosis
Typical Symptoms
Mild cases may be asymptomatic; in severe cases, hemolysis may occur, such as dizziness, fatigue and other symptoms of anemia, and there may also be jaundice, hepatomegaly, splenomegaly and other manifestations; some types may be accompanied by cyanosis.
Diagnostic basis
1. positive family history.2. anemia symptoms such as dizziness and fatigue, but also jaundice, hepatomegaly, splenomegaly, etc.; some patients may be accompanied by cyanosis.3. hemoglobin is normal or decreased; erythrocytes are hypochromic and uneven in size, and polychromatic and basophilic punctate red blood cells are seen, with reticulocytosis.4. heat denaturation test and isoprostanes test are positive.
Treatment
Treatment guidelines
There is no curative treatment, but symptomatic and supportive treatment can be given according to the condition.
Drug treatment
1. For repeated hemolysis, oral folic acid can be given. 2. If there is a source of infection, the infection should be controlled in time. 3. In acute hemolytic episodes, blood transfusion is needed for treatment. 4.
Surgical treatment
Splenectomy is effective in some patients, but splenectomy should be avoided in patients with increased oxygen affinity, which may lead to exacerbation of the disease.
Prognosis
The prognosis is good for patients with mild hemolysis; severe hemolysis and anemia may cause hemolytic crisis and death; hemoglobinosis and thrombosis may occur after splenectomy in patients with increased oxygen affinity, which may also lead to death.
Nursing care
Daily care
1. Environment and hygiene: maintain a suitable greenhouse and ventilate frequently; keep the environment clean and hygiene and the patient’s body clean to prevent infections; do a good job in oral care, perineal and anal care to prevent various infections. 2. Rest and activities: patients should have sufficient rest, live a regular life, avoid exertion, and maintain sufficient sleep to prevent aggravation of the condition. 3. Medications: guide patients to take medications according to the doctor’s instructions, adhere to regular medications, and review the medications regularly. 4. Outpatient review. Infections or oxidizing drugs should be avoided.4. Psychological carePatients should learn to self-adjust their mentality and talk to each other; family members should be good at understanding and supporting patients, and learn to listen to them; they should seek the help of professionals when necessary to avoid accidents.
Dietary care
High protein, high vitamin, easy to digest diet.
Other Attention
Oxidizing drugs that can induce the generation of free radicals should be avoided.