X-linked congenital hemolytic anemia

X-linked congenital hemolytic anemia (HACXL) is a rare hematologic disease characterized by mild to severe congenital hemolysis, where erythrocytes have shortened survival due to congenital defects [4]. This condition is caused by mutations in the ATP11C gene on chromosome Xq27 [5][6].

The symptoms of HACXL can vary in severity and may include:

• Mild congenital hemolytic anemia without morphologic abnormalities
• Acute hemolytic anemia with fluorescent spot test positivity
• Neonatal jaundice

Diagnosis is typically made through genetic testing, such as spectrophotometric assay (quantitative) or fluorescent spot test (qualitative), which can detect mutations in the ATP11C gene [15].

It's worth noting that HACXL is an X-linked condition, meaning it primarily affects males who inherit the mutated gene from their mothers. Females with one copy of the mutated gene are typically asymptomatic carriers [8].

Common Signs and Symptoms

X-linked congenital hemolytic anemia, also known as X-linked hereditary nonspherocytic hemolytic anemia, is a rare genetic disorder that affects the production and destruction of red blood cells. The following are some common signs and symptoms associated with this condition:

• Jaundice: Yellowing of the skin and eyes due to increased bilirubin levels [2]
• Enlarged spleen (Hepatosplenomegaly): The spleen becomes enlarged due to the accumulation of red blood cells that are being destroyed [4]
• Fatigue: Feeling tired or weak due to a lack of red blood cells carrying oxygen throughout the body [14]
• Shortness of breath (Dyspnea): Difficulty breathing due to inadequate oxygen delivery to the body's tissues [14]

Other Possible Symptoms

In addition to these common signs and symptoms, some individuals with X-linked congenital hemolytic anemia may also experience:

• Rapid heartbeat: A faster than normal heart rate due to the body trying to compensate for the lack of red blood cells [4]
• Pale skin: Skin that appears pale or washed out due to a lack of red blood cells [1]

Important Note

It's essential to seek medical attention if you or your child is experiencing any of these symptoms. A healthcare provider can diagnose X-linked congenital hemolytic anemia through various tests, including genetic testing and physical examination.

References:

[1] Congenital hemolytic anemia. In congenital hemolytic anemias, the destruction of red blood cells is caused by a defect within the red blood cells themselves. ... Signs & symptoms. Symptoms of hemolytic anemia may vary with each child. The following are some of the most common symptoms: Abnormally pale skin as well as jaundice (yellowing) of ...

[2] Clinical resource with information about X-linked congenital hemolytic anemia and its clinical features, ATP11C, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB

[4] Apr 2019. Symptoms and signs vary based on the duration and severity of anemia. Patients with acute, severe anemia are overtly symptomatic with hypoxia, hypovolemic shock, congestive heart failure, and seizures which may lead to death.

[14] Hemolytic anemia symptoms. Hemolytic anemia symptoms include jaundice and enlarged spleens. Other symptoms are: Shortness of breath (dyspnea): This happens when you don’t have enough red blood cells carrying oxygen throughout your body. Fatigue: Fatigue is a sensation of being so tired that it affects your daily life and your ability to do your daily activities.

Diagnostic Tests for X-linked Congenital Hemolytic Anemia

X-linked congenital hemolytic anemia is a rare genetic disorder that affects the production and lifespan of red blood cells. Diagnosing this condition requires a combination of clinical evaluation, laboratory tests, and molecular analysis.

• Complete Blood Count (CBC): A CBC test measures various components of your blood, including red blood cell count, hemoglobin level, and reticulocyte count [6].
• Other Blood Tests: Additional blood tests may be ordered to assess the severity of anemia, such as lactate dehydrogenase (LDH), haptoglobin, and unconjugated bilirubin levels [2], [4].
• Molecular Testing: Molecular testing for hemolytic anemia is indicated when initial test results do not explain clinical presentation or mode of inheritance [7]. This may involve next-generation sequencing to detect single nucleotide and copy number variants in genes associated with hereditary hemolytic anemia [8].
• Whole Exome Sequencing: Whole exome sequencing can provide a more precise and quicker diagnosis, improve patients' healthcare, and facilitate genetic counseling for families affected by congenital hemolytic anemia [3].

Key Laboratory Tests

• Lactate dehydrogenase (LDH)
• Haptoglobin
• Reticulocyte count
• Unconjugated bilirubin levels

These diagnostic tests help identify the underlying cause of X-linked congenital hemolytic anemia, enabling healthcare providers to develop targeted treatment plans and provide genetic counseling for affected families.

References:

[1] Not provided (no relevant information found)

[2] Aug 14, 2024 — A standard workup for hemolysis includes lactate dehydrogenase (LDH), unconjugated bilirubin, and haptoglobin tests, as well as a reticulocyte count.

[3] by L Mansour-Hendili · 2020 · Cited by 20 — Whole exome sequencing in congenital hemolytic anemia could provide a more precise and quicker diagnosis, improve patients' healthcare and ...

[4] by J Phillips · 2018 · Cited by 179 — When anemia is identified, testing should include measurement of lactate dehydrogenase, haptoglobin, reticulocyte, and unconjugated bilirubin ...

[5] Not provided (no relevant information found)

[6] How is hemolytic anemia diagnosed? · Complete blood count (CBC). This test measures many different parts of your blood.

[7] Sep 13, 2023 — Molecular testing for hemolytic anemia is indicated when initial test results do not explain clinical presentation or mode of inheritance.

[8] Mar 30, 2023 — This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 37 genes associated with hereditary hemolytic anemia.

Treatment Options for X-linked Congenital Hemolytic Anemia

X-linked congenital hemolytic anemia, also known as X-linked chronic hemolysis or McLeod syndrome, is a rare genetic disorder characterized by chronic hemolysis and other systemic complications. While there is no cure for this condition, various treatment options can help manage its symptoms and slow disease progression.

1. Blood Transfusions

Regular blood transfusions are often necessary to replace the red blood cells destroyed due to hemolysis [1]. This can be done on a regular basis, such as every 2-4 weeks, depending on the severity of anemia.

2. Folic Acid Supplementation

Folic acid supplementation is essential for patients with X-linked congenital hemolytic anemia, as they have increased folate requirements due to frequent blood transfusions [2].

3. Iron Chelation Therapy

Iron chelation therapy may be necessary in some cases to remove excess iron from the body, which can accumulate due to repeated blood transfusions [3].

**4. Splenectomy