obsolete sickle-cell/Hb-C disease with crisis

Sickle cell disease (SCD) is a group of inherited red blood cell disorders that can cause anemia and a "sickle cell crisis" (SCC). The main clinical feature of SCD is the "acute painful crisis," which often requires hospitalization. A sickle cell crisis, also known as a vaso-occlusive crisis, occurs when sickled cells get stuck in a blood vessel and slow or stop blood flow, resulting in pain and other complications.

Characteristics of Obsolete Sickle-cell/Hb-C Disease:

• Characterized by the presence of both hemoglobin S and hemoglobin C (Hb SC disease)
• Similar to but less severe than sickle cell anemia
• Results from inheriting a hemoglobin S gene from one parent and a gene for Hb C from the other parent
• Typically considered a milder form of SCD

Symptoms:

• Pain in the long bones, abdomen, and chest can indicate a sickle cell crisis
• Worsening anemia, fever, shortness of breath, and low oxygen levels can indicate acute chest syndrome, a major complication of SCD

Note: The term "obsolete" is used to describe this form of sickle-cell/Hb-C disease as it is less severe than other forms of SCD. However, it still requires proper medical attention and management.

References:

• [1] Sickle cell disease (SCD) is a group of inherited red blood cell disorders affecting about 1 in 500 African American children and 1 in 36,000 Hispanic American children.[10]
• [2] The main clinical feature of sickle cell disease is the "acute painful crisis," which often requires hospitalization.[10]
• [8] One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia.
• [14] This form of SCD inherits a hemoglobin S gene from one parent and a gene for Hb C from the other parent.

Based on the provided context, it appears that there are several diagnostic tests that were once used to diagnose sickle cell disease and Hb-C disease, but may be considered obsolete or less commonly used today.

• Sickling test: This test was used to establish the presence of the HbS gene in individuals with uncertain diagnosis of sickle cell anemia (Context 1). However, it is not clear if this test is still widely used today.
• Hemoglobin electrophoresis: This test was mentioned as a diagnostic test for sickle cell disease and Hb-C disease (Contexts 7 and 13). While it may still be used in some cases, it is likely that more modern and accurate tests have replaced it.
• Isoelectric focusing and/or high-performance liquid chromatography (HPLC): These tests were mentioned as part of newborn screening programs for sickle cell disease (Contexts 6 and 13). They are likely still used today as a standard diagnostic tool.

It's worth noting that modern diagnosis of sickle cell disease often involves a combination of clinical evaluation, laboratory tests, and genetic analysis. The most up-to-date information on diagnostic tests for sickle cell disease can be found in recent medical literature and guidelines.

References:

• Context 1: Sickling test used to establish the presence of HbS gene.
• Contexts 7 and 13: Hemoglobin electrophoresis mentioned as a diagnostic test for sickle cell disease and Hb-C disease.
• Contexts 6 and 13: Isoelectric focusing and/or HPLC mentioned as part of newborn screening programs for sickle cell disease.

Current Drug Treatments for Sickle Cell Disease

Sickle cell disease (SCD) is a genetic disorder that affects hemoglobin production in red blood cells, leading to various complications such as anemia, pain crises, and organ damage. While there are no cures available yet, several medications have been approved by the US Food and Drug Administration (FDA) to manage SCD symptoms and slow disease progression.

Approved Medications

1. Hydroxyurea: This is the most commonly used medication for SCD, which has been shown to reduce the frequency of pain crises and slow disease progression [2][4]. Hydroxyurea increases fetal hemoglobin production, reducing sickling of red blood cells [14].
2. Endari (L-glutamine): Approved in 2017, Endari is a medication that reduces the risk of painful crises and slows disease progression in patients with SCD [5].
3. Adakveo: This is another FDA-approved medication for SCD, which has been shown to reduce the frequency of vaso-occlusive crises (painful episodes) [5].

Other Medications

In addition to these approved medications, other treatments are being explored or have been used in the past to manage SCD symptoms. These include:

• Antimetabolites: Such as hydroxyurea and Endari, which work by reducing sickling of red blood cells.
• Analgesics: Medications like acetaminophen and ibuprofen are often used to manage pain crises.
• Antibiotics: To treat infections that can occur in patients with SCD.

Emerging Therapies

Researchers continue to explore new treatments for SCD, including gene therapies and stem cell transplants. These emerging therapies hold promise for potentially curing the disease or significantly improving patient outcomes [8][13].

References:

[1] Context 3 [2] Context 12 [4] Context 12 [5] Context 5 [8] Context 8 [13] Context 13 [14] Context 14

Based on the provided context, it appears that you are looking for information on the differential diagnosis of a condition related to sickle-cell/Hb-C disease, specifically when a crisis is involved.

Possible Causes of Crisis in Sickle-Cell/Hb-C Disease

According to search result [2], aplastic crises rank high in the differential diagnosis and should be suspected whenever the absolute reticulocyte count is < 100,000/μL. This suggests that an aplastic crisis could be a possible cause of a crisis in sickle-cell/Hb-C disease.

Other Possible Causes

Search result [3] mentions that vaso-occlusive crises are a common painful complication of sickle cell disease in adolescents and adults. This implies that vaso-occlusive crises could also be a possible cause of a crisis in sickle-cell/Hb-C disease.

Differential Diagnosis

When considering the differential diagnosis for a crisis in sickle-cell/Hb-C disease, it's essential to rule out other conditions that may present with similar symptoms. Search result [8] suggests that hemoglobin SC disease should not be considered as a mild form of sickle cell anemia but as a separate disease. This implies that hemoglobin SC disease could be a differential diagnosis for a crisis in sickle-cell/Hb-C disease.

Other Conditions to Consider

Search result [9] mentions mechanisms of SCD pain, which likely include components such as hypoxia-reperfusion injury, inflammation, increased red blood cell adhesion, and others. This suggests that other conditions related to these mechanisms could also be considered in the differential diagnosis for a crisis in sickle-cell/Hb-C disease.

Summary

In summary, when considering the differential diagnosis of a crisis in sickle-cell/Hb-C disease, it's essential to consider aplastic crises, vaso-occlusive crises, hemoglobin SC disease, and other conditions related to mechanisms of SCD pain. A thorough evaluation of these possibilities can help determine the underlying cause of the crisis.

References: [2] - Search result 2 [3] - Search result 3 [8] - Search result 8 [9] - Search result 9