Caring for "glass people" - home life and rehabilitation guidance for hemophilia patients

Author: Cheng Hongxia Shanxi Bethune Hospital

Reviewer: Zhang Ruijuan, Chief Physician of Hematology Department, Shanxi Bethune Hospital

Hemophiliacs are often called "glass people" because some trivial injuries may bring fatal risks to them. However, with the continuous development of modern medicine, more and more hemophiliacs can get rid of their fear, return to normal life, and even realize their dream of giving birth to healthy offspring.

1. What is hemophilia?

Hemophilia is a hereditary bleeding disorder caused by an abnormality in chromosome X. Usually, males are affected, females carry and pass on the disease, and female patients are extremely rare.

2. Characteristics of hemophilia

① Hereditary: Hemophilia is a disease caused by genetic gene mutation and is usually passed down from generation to generation in the family.

② Lifelong: Once the disease occurs, the patient needs lifelong treatment and management.

③Disability: Frequent bleeding, especially bleeding in joints and muscles, may lead to permanent disability.

3. Types of Hemophilia

① Hemophilia A: caused by a deficiency of coagulation factor VIII (FVIII), accounting for 80%-85% of the total number of hemophilia patients.

②Hemophilia B: caused by deficiency of coagulation factor IX (FIX), accounting for 15%-20% of the total number of hemophilia patients.

4. Clinical manifestations of hemophilia - bleeding

Most bleeding in hemophiliacs is spontaneous or caused by minor trauma, and the bleeding sites include skin, mucous membranes, muscles, joints, etc., and it is common to see persistent bleeding after minor surgery (such as tooth extraction, tonsillectomy). Severe hemophiliacs may experience "spontaneous" bleeding even without obvious trauma, usually manifested as hematomas in soft tissue or deep muscles; repeated bleeding in weight-bearing joints (such as the knee joints) eventually leads to hemophilic arthropathy, manifested as joint swelling, stiffness, deformity, etc.

The severity of hemophilia is determined by the concentration of the factor:

① Severe: Factor concentration

② Moderate: Factor concentration 1%-5% (0.01-0.05), occasional spontaneous bleeding, severe bleeding is prone to occur after trauma or surgery.

③ Mild: factor concentration 5%-40% (0.05-0.40), severe bleeding only occurs after severe trauma or major surgery.

5. Treatment of hemophilia

(1) General treatment: self-protection, prevention of injury and bleeding, early and effective treatment of bleeding, and avoidance of complications. For patients with severe bleeding, preventive treatment should be encouraged.

(2) Replacement therapy: Supplementing the missing coagulation factors and controlling bleeding in a timely and effective manner is a key measure to prevent and treat bleeding in hemophilia patients. It mainly includes:

① On-demand treatment: After bleeding occurs, coagulation factors are infused according to the site and severity of bleeding, with the aim of stopping bleeding in a timely manner.

② Preventive treatment: Regular preventive infusion of coagulation factor products can prevent joint disability and enable patients to live, work and study normally. With the improvement of my country's economic and medical conditions, it is recommended to gradually implement medium-dose preventive treatment programs for hemophilia patients whose economic conditions allow.

③Home treatment: Home treatment refers to a model in which hemophilia patients and (or) family members, after formal training, evaluate and treat bleeding that has (or may) occur at home.

6. What are the advantages and precautions of home treatment based on alternative treatment?

Patients receiving home treatment can immediately obtain coagulation factors, achieve optimal early treatment, reduce pain, reduce the risk of disability, and reduce the high medical expenses caused by hospitalization due to complications. This treatment model is an extension and supplement to hospital care services.

(1) Indications for home treatment: joint bleeding, muscle bleeding (especially in the upper and lower limbs), and skin bruises or lacerations that do not require suturing.

(2) Training is required before home treatment

Patients and their families need to receive diagnosis, treatment and follow-up from the comprehensive care team at the hemophilia center, and learn about bleeding assessment, first aid measures, configuration, storage and use of coagulation factors, aseptic operation, coagulation factor dosage calculation, self-injection, and filling and preservation of treatment records.

(3) Do appropriate rehabilitation exercises

① Appropriate exercise plays an important role in the neuromuscular development and overall health of hemophilia patients. In daily life, it is recommended to choose non-contact sports, such as swimming, walking, jogging, golf, cycling, table tennis, badminton, rowing, etc.

② It is not recommended to participate in high-contact and high-collision sports, such as football, boxing, wrestling, skiing, etc. These sports may cause serious life-threatening injuries. If patients choose to participate in such sports, they must receive adequate preventive treatment and have a full understanding of the potential risks.

7. Conclusion

Hemophilia is a chronic disease that can achieve a good quality of life through standardized treatment and management. By raising public awareness of hemophilia, promoting scientific prevention, standardized diagnosis and treatment, and nursing, so that every hemophilia patient can enjoy the opportunity of treatment and share a harmonious and healthy life, this is the goal that each of us should work together to achieve. Let us join hands to care for the "glass people" around us and contribute to the prevention and treatment of hemophilia.