The name of the disease, “genetic haemorrhagic disease”, may sound strange, but in practice it is extremely harmful to patients. If you don't get it earlyDiagnosisAnd timelinessTreatmentThe disease will lead to a series of severe consequences, such as cirrhosis, diabetes and heart failure, which in turn will seriously affect the quality of life and life expectancy of patients. Given the relative scarcity of the disease in our country, it is often prone to omissions. Today, beijing friendship hospitalHepatosisSpecialists at the centre provide information on the treatment of genetic haematosis。
What is genetic blood
Genetic haemoglobinism is a genetic liver disease that has its roots in the mutation of the relevant genes, which leads to iron metabolic disorders. As a result, the intestine absorption of iron in the diet is not effectively regulated, resulting in excessive iron being sucked into blood and deposited in various parts of the liver, heart, pancreas, sex glands, joints and skin. These iron depositions give rise to a range of clinical manifestations, including hepatic fibrosis, cirrhosis and even primary liver cancer, as well as cardiac disorders or cardiac failure, diabetes, sexual dysfunction, joint disease and skin-colouring。
What is the incidence of hereditary haematosis
There is a relatively high incidence of hereditary haemoglobinism among european and american species, ranging from about 1/400 to 1/200. In contrast, the incidence of the disease is low among the asian population and is considered a rare disease. Systematic epidemiological studies on genetic haemoglobinism are not sufficient in our country, so the specific incidence is not yet clear. Currently, individual cases or case series are mainly reported in the literature。
What are the clinical manifestations of hereditary haematosis
Symptoms of genetic haematosis vary, and some patients may not even have any visible symptoms at an early age. In general, symptoms occur more often after the age of 30, and are diverse and non-specific, including inexplicable chronic fatigue, sexual dysfunction, joint pains (especially in the second and third hands, manifested in handshake pains) and skin blackness (not visible at an early stage)。
Diabetes, heart disease (e. G. Cardiac disorders, short-temporal activity), liver diseases (e. G. Abnormal detection of liver function or increase of the liver) can occur when the disease progresss or some serious type。
Teenage hereditary haemopathy can have very serious symptoms after adolescence, diabetes, heart failure and sexual dysfunction。
How do we find genetic blood
Screening of iron indicators, including iron protein and trans-iron saturation, is recommended for any patients with unknown liver diseases, with or without skin colours, joint changes, diabetes and heart disease。
If the iron protein is elevated and other reasons are excluded, further liver nucleomagnetic examinations may be performed to determine whether there is a liver or spleen overload. If the iron indicator increases and the nucleo-magnetic indication liver or spleen is overloaded, there is a risk of genetic haematosis, and further explicit diagnosis is recommended to the liver specialist。
What's the saturation of iron and trans-iron
Iron protein reflects the amount of iron stored in human organs, and its levels are an important indicator for assessing iron overload. In particular, there may be iron overload when men and post-menopausal women have iron protein levels above 300 ng/ml and before menopause women over 200 ng/ml。
Next, let's get to the concept of iron protein saturation. First, trans-iron protein is the protein in the blood that transports iron, which can be portrayed as a ship, whereas iron is the cargo on board. The combined force of iron represents the maximum quantity of iron that the ship can carry, i. E. The maximum volume of cargo carried by the ship. The saturation of trans-iron protein is the percentage of iron actually loaded (i. E., the quantity of cargo on board) in relation to the aggregate strength of iron (i. E., the maximum load). Under normal circumstances, this percentage is about 30 per cent。
The formula for saturation of trans-iron is: (sero-iron/iron binding) x 100%. When men have more than 50% iron protein saturation and more than 45% women, the same point is made that iron overload may exist. This indicator is likely to be as high as 100 per cent of the population with hereditary blood。
If the iron protein rises, must it be genetic blood
No, the increase in iron protein is common among the general population, most of which is not genetic blood。
The most common cause of the increase in iron proteins is “gravity syndrome” (in the form of hyperweight/obese, hypertension, diabetes, hyperliptic haematosis and, in part, coronary heart disease, sclerosis of the artery, etc.), but the saturation of trans-iron protein in metabolism patients is generally not higher。
Other common causes of iron protein increase include inflammation and alcohol abuse. Iron protein can return to normal when inflammation recedes。
In addition, diseases of the blood system, such as ineffectiveness of bone marrow blood or frequent red cell infusion due to blood disease, can cause iron protein to rise。
Genetic haemorrhagic disease is genetic. Do you need a genetic test
Genetic haemorrhagic disease is rare in the country and its genes are clearly different from those of the european and american populations, and it is recommended that genetic tests be carried out to determine which genes are caused. Policy recommendations for genetic testing: first, detection of common genetic haemoglobin genes, including hfe, hjv, hamp, tfr2, slc40a1, if no mutation has been detected, but there is a high level of clinical suspicion of genetic haematosis, and further mapping of the whole exterior genre is recommended to clarify whether there are other genetic mutations associated with iron metabolism。
How do you treat genetic blood? How did you remove too much iron
The treatment of intravenous blood is the primary means of treatment for genetic blood. Our body contains 5l blood. The bone marrow is a blood factory in which iron is the main nutritional element that sustains its operation. With a lifetime of only three months, the bone marrow continues to produce new red cells to replace older red cells. When blood is removed from the veins, the bone marrow accelerates the production of new red cells to replace the red cells removed. To achieve this process, iron is transferred from the liver to the bone marrow and is used to produce new red cells. As long as there is too much iron in the liver of the patient, red cells removed through intravenous blood therapy can easily be replaced. Blood is repeated until all the excess iron in the liver is depleted。
How's intravenous blood treatment going
The treatment of intravenous blood consists of two stages:
1) inducing period: this stage, with a high frequency of bleeding and one per week, 400-500 ml at a time, in order to quickly and safely remove excess iron from the various organs, with the goal of reducing iron protein to 50-100 ng/ml. This period lasts for several months to several years, depending on the amount of iron deposited in the various organs at the time of diagnosis. In some medical institutions, “red cell single mining” can be carried out to remove only the red cells from the blood, rather than the whole blood, which can reduce the number of leachings, especially for patients with severe iron deposition。
2) maintenance period: once the iron protein reaches 50-100 ng/ml, it can enter the maintenance period and the frequency of bleeding can be reduced to only 2-6 regular bleeding per year to prevent further iron deposition。
What are the concerns about the life of hereditary haematosis
In the area of diet, emphasis should be placed on healthy, nutritious diets, which generally allow for eating what they like. However, the consumption of iron-rich food, iron supplements and vitamin c should be avoided, as well as a moderate intake of red meat and limited drinking. A proper amount of juice, especially citrus juice. These dietary recommendations help to reduce intestinal absorption of iron, but are no substitute for intravenous blood treatment。
Due to the vulnerability of persons with hereditary haemoglobins to traumatic fungus, food-fed or uncooked seafood (especially in subtropical areas) should be avoided, as should the contamination of open wounds by seawater。
