Sickle Cell Anemia: Types, Symptoms, and Treatment
Rare Blood Disorders Explained
The term "rare blood disorders" describes less common conditions that affect blood cells' ability to function correctly.
Bone marrow is a spongy substance present in the center of bones. It produces the three main types of cells in blood: red blood cells (RBCs), white blood cells (WBCs), and platelets. RBCs carry oxygen around the body, WBCs help prevent infections, and platelets control bleeding.
Health experts may separate rare blood disorders into two classes:
This article further explores rare blood disorders, explaining the types and treatments.
Myeloproliferative neoplasms (MPNs) are a group of conditions in which the body produces too many myeloid cells. Experts classify MPNs as a type of blood cancer.
The type of MPN a person has depends on the type of myeloid cells the body is overproducing. In some cases, the body overproduces more than one type of blood cell. However, the condition usually affects one type of blood cell more than others.
MPNs typically result from genetic changes, such as variations in the JAK2 gene. Risk factors can include exposure to radiation or certain chemicals.
According to the National Cancer Institute, there are six types of MPNs.
Chronic myelogenous leukemiaChronic myelogenous leukemia is a slow-growing cancer in which the bone marrow produces too many WBCs. As it progresses, immature WBCs called myeloblasts build up in the blood and bone marrow and impair the development of other blood cells. This condition is also known as chronic granulocytic leukemia.
Polycythemia veraPolycythemia vera causes the blood to thicken as a result of having too many RBCs in the bone marrow and blood. It may also increase the number of WBCs and platelets.
This condition can result in bleeding problems and the formation of blood clots in blood vessels.
Primary myelofibrosisPrimary myelofibrosis is a progressive condition in which fibrous tissue replaces bone marrow. As a result, organs such as the liver and spleen make blood instead of the bone marrow.
Other names for this disorder include:
Also known as essential thrombocytosis, this condition results in an increase in platelets, or thombocytes, in the blood. The main cause of essential thrombocythemia is the overproduction of hematopoietic cells due to changes in certain genes, such as JAK2, CALR, and MPL. Hematopoietic cells are cells that can develop into all types of blood cells.
Chronic neutrophilic leukemiaChronic neutrophilic leukemia occurs when the blood contains too many neutrophils, which are a type of WBC. The extra neutrophils may cause spleen and liver enlargement and may quickly progress to acute leukemia.
This type of leukemia is rare.
Chronic eosinophilic leukemiaChronic eosinophilic leukemia occurs when too many eosinophils (another type of WBCs) are present in the bone marrow, the blood, and other tissues. This condition can also quickly progress to acute leukemia.
This is also a rare condition.
Histiocytosis is a group of conditions that result from an overproduction of a type of WBCs known as histiocytes, which play a role in immune function.
In all forms of histiocytosis, these cells begin to attack the body, targeting structures such as the:
In 2016, the Histiocyte Society suggested arranging the forms of histiocytosis into five main groups depending on how the condition begins, presents, and progresses. These groups are:
PNH is a condition that causes RBCs to break apart prematurely. Evidence suggests that PNH is a rare disorder, affecting 1–5 of every million people.
PNH typically occurs when variations of the PIGA or PIGT gene occur in blood-forming cells known as hematopoietic stem cells. These cells are abundant in the bone marrow and produce various types of blood cells. Changes in the PIGA or PIGT gene cause these blood cells to lack a protein that protects them from the body's immune system.
The name comes from the fact that many people may notice sudden, irregular episodes of passing red or dark urine, especially at night or in the early morning. However, not everyone with PNH will have visibly dark urine.
People with PNH may experience frequent infections, anemia, and problems with blood clotting. However, the symptoms can vary greatly from person to person. Some people may experience only mild symptoms, while others may have serious symptoms that can progress to cause life threatening complications.
Castleman disease is a rare group of lymphoproliferative disorders involving enlargement of lymph node tissue. Evidence suggests that 4,300–5,200 people in the United States receive a diagnosis each year.
There are two main types of Castleman disease: unicentric (UCD) and multicentric (MCD). UCD is the more common type and affects lymph nodes in one area of the body. MCD is rarer and presents as enlarged lymph nodes throughout the body. MCD is typically more severe.
Health experts do not know the exact cause of Castleman disease, but it may result from problems with immune system regulation and certain infections. Signs and symptoms are more common with MCD and may include low RBC counts and irregular platelet levels.
Gaucher disease is a rare metabolic disorder that occurs in roughly 1 in 50,000–100,000 people.
Gaucher disease occurs when a person inherits a variation in the GBA gene. This gene provides the instructions for the enzyme glucocerebrosidase, which breaks down a sugary fat known as glucocerebroside.
Without this enzyme, cells cannot break down glucocerebroside, and it builds up, preventing the cells from functioning correctly. Enlarged cells containing glucocerebroside are known as Gaucher cells.
Gaucher cells may build up in the spleen, liver, or bone marrow. When this happens, the tissue or organ may enlarge and stop functioning correctly. When Gaucher cells damage the bone marrow, this can interfere with the production of RBCs and platelets. Deficiencies in these components of blood can lead to anemia and blood clotting problems.
Treatment depends on the blood disorder a person has, the blood cells it affects, and the symptoms a person experiences. In some cases, healthcare professionals cannot cure the condition but can help manage it.
Potential treatment options for myeloproliferative disorders include:
Possible treatments for lymphoproliferative disorders include:
The following are some questions people frequently ask about rare blood disorders.
What are the most rare blood disorders?There are many rare blood disorders, and it is difficult to measure which are the rarest. Polycythemia vera, histiocytosis, and PNH are some examples of rare blood disorders.
Which blood disorder is not treatable?Typically, treatment is available for all blood disorders, but not every blood disorder is curable. For example, treatment is available to help effectively manage polycythemia vera for long periods, but no cure is currently available.
What is a rare red blood cell disease?Blood disorders can affect different components of the blood, such as RBCs. Diamond-Blackfan anemia is one rare blood disease that affects RBCs.
Learn more about red blood cell disorders.
Rare blood disorders are uncommon conditions that affect the blood cells' ability to function correctly. Health experts may categorize them as myeloproliferative or lymphoproliferative depending on the types of blood cells they affect.
Common symptoms may include anemia and problems with blood clotting. Treatment will depend on the condition but may include chemotherapy and stem cell transplants.
Blood Diseases
Do you know what is your blood made up of? There are several components of blood- red blood cells, white blood cells, platelets and plasma. Your blood majorly consists of plasma which is the liquid part and consists of protein and salts. Red blood cells work to supply oxygen to the tissues, white blood cells are important to fight infections and platelets help in clotting. When one or more parts of the blood get affected by blood diseases, your blood is unable to perform its core functions. In most cases, blood diseases are hereditary but there are several other reasons such as other diseases, deficiency of nutrients and side-effects of medications, that can cause a blood disease to occur.
What are the symptoms of a blood disease?
Symptoms of blood diseases are different from one another. It depends on what part of the blood is affected and how severe it has become. Let us tell you the general signs of a blood disease.
Symptoms of red blood cell diseases:
Symptoms of white blood cell diseases:
Symptoms of platelet diseases:
Blood Diseases Affecting Red Blood Cells
Anaemia: This is a very common blood disorder that is caused when the number of red blood cells becomes too low in the blood. Mildly anaemic people don't show significant symptoms but severe anaemic people may experience a problem in breathing, fatigue and pale skin.
Iron-deficiency anaemia: You must have heard that iron is very important for the body. It is because it makes red blood cells. When you don't consume an adequate amount of iron, it causes iron-deficiency. Menstruating women should have iron to combat red blood cell loss during periods.
Chronic Disease Anaemia: People who have chronic diseases like kidney diseases are highly likely to develop anaemia. This doesn't require treatment as this can be managed by a synthetic hormone named Epogen or Procrit to increase the production of red blood cells. Only some patients may require blood transfusions.
Pernicious anemia or vitamin B12 deficiency: If you are not consuming enough vitamin B12 or your body is unable to absorb this vitamin from your diet, this anaemia may be caused. The common cause of this condition is an autoimmune disease.
Aplastic anemia: In this disease, there is a problem with the bone marrow as it doesn't produce enough red blood cells. Hepatitis, pregnancy, HIV, chemotherapy medications and side-effects to any drug may be causing this condition. If the condition is not treated with medications and blood transfusions, the patient may need a bone marrow transplant.
Autoimmune hemolytic anemia: When the red blood cells are destroyed due to an overactive immune system, it causes hemolytic anaemia. Immune-suppressing medicines can help in controlling this condition.
Thalassemia: This is a chronic blood disease wherein the patients are administered blood transfusions regularly.
Polycythemia vera: Excess of red blood cells is also injurious to health. If the body produces too many red blood cells, it may cause unnecessary blood clots.
Malaria: Not many people know but malaria is also a red blood cell disease where the mosquito carrying the parasite bites a person and injects the parasite into the blood. This causes infection in red blood cells and leading to numerous symptoms.
Blood Diseases Affecting White Blood Cells
Lymphoma: This is a kind of blood cancer where a white blood cell named lymphoma becomes malignant and starts to multiply and spread abnormally. The two types of this cancer are- Hodgkin's lymphoma and non-Hodgkin's lymphoma. Radiation therapy and chemotherapy can reduce the damage and cure this cancer condition.
Leukaemia: This is another blood cancer where white blood cells inside the bone marrow become malignant. Leukaemia may be slow progressing or severe and the best ways to combat this condition are bone marrow transplant(stem cell transplant) and chemotherapy.
Multiple myeloma: This is another blood cancer where plasma cell becomes cancerous and releases a dangerous substance that can cause damage to organs. There is no cure for this condition but treatments like chemotherapy and stem cell transplant can extend the life span of the patient.
Myelodysplastic syndrome: This is a slowly-progressing syndrome that is a blood cancer. This can progress into acute leukaemia.
Blood Diseases Affecting Platelets
Thrombocytopenia: When the number or platelets in the blood are very low, thrombocytopenia condition can be caused. This disorder is characterised by abnormal bleeding.
Heparin-induced thrombocytopenia: This thrombocytopenia condition is induced by heparin which is a blood thinner that helps in the prevention of blood clotting. This can cause a low platelet count. Abnormal bleeding, abnormal bruising and red spots on the skin are symptoms of this condition.
Thrombotic thrombocytopenic purpura: This is a very rare condition where clotting occurs in the blood vessels leading to a drop in the platelet count.
Primary thrombocythemia or Essential thrombocytosis: In this condition, the body produces excess platelets due to either reason but these don't use up properly leading to bleeding and excessive blood clotting.
Blood Diseases Affecting Blood Plasma
Haemophilia: This is a deficiency in genes where some proteins trigger the blood to clot. Depending on the severity of the condition, there are different types of Haemophilia.
Hypercoaguable state: This is a condition where the blood easily clots and in most cases, this condition goes unnoticed and undiagnosed. Some people may suffer from this condition throughout their lives and some have a severe form of this condition where they may need to take blood thinning medicines daily to combat the situation.
Deep venous thrombosis: In this blood disorder, blood clotting occurs in the deep vein which is mostly in the leg. This disease can travel to your vital organs where it may also cause a pulmonary embolism.
Disseminated intravascular coagulation (DIC): This is a blood disease that causes unnecessary bleeding and small blood clots in the entire body. Several conditions like pregnancy complications, recent surgery and severe infections can lead to this condition.
von Willebrand disease: In this blood disorder, the body either produces too little or too high von Willebrand factor protein. This protein is essential in blood clotting. In most cases, this disease is inherited but sadly, it doesn't have visible symptoms.
The Real Story Behind 'White Lung Pneumonia'
Experts say a pneumonia outbreak among children in Ohio and a cluster of pneumonia cases in China are unrelated, despite some social media posts and tabloid articles that have ambiguously linked the two.
The usual respiratory pathogens are making their rounds this cold and flu season, yet the specter of the pandemic has left many on alert for the next novel agent.
"I understand outbreaks in China can make people nervous, but this is not that," says Paul Offit, an infectious disease physician at Children's Hospital of Philadelphia. Although another global illness may emerge in the future, the current pneumonia reports are "nothing to worry about," he adds.
Many pathogens that circulate in the Northern Hemisphere's winter and year-round—including flu, respiratory syncytial virus (RSV) and now COVID—are far from benign and can lead to pneumonia in some cases. But experts say there is no reason to panic or interpret the current uptick in illnesses as anything other than the typical circulation of respiratory viruses and bacteria.
These are "just everyday pathogens that normally increase during the winter having a somewhat early and very assertive increase at the present time," says William Schaffner, an infectious disease physician and a professor at Vanderbilt University Medical Center. But people are not helpless against these germs, says Rama Thyagarajan, an infectious disease and internal medicine physician at the University of Texas at Austin Dell Medical School. COVID, the flu and RSV all have vaccines that can reduce the risk of pneumonia, she says.
Schaffner agrees, calling these immunizations "the best present you can give in this holiday season to yourself and to your family and to your neighbors."
Here's what to know about the recent reports of pneumonia and the term "white lung pneumonia," which has been used in some news coverage to describe the uptick in cases.
What clusters of pneumonia cases are being reported?
Warren County, Ohio's public health department, which serves the northeastern suburbs of Cincinnati, reported a large uptick in the number of typical pneumonia cases in children, with 145 cases in those three to 14 years old recorded as of November 29. Massachusetts has also reported an increase in RSV and "walking pneumonia" among children.
Earlier in November China had reported an increase in respiratory disease cases. Chinese health officials attributed this uptick to the lift of COVID restrictions and the usual rise in known pathogens that can also make people vulnerable to pneumonia, including flu, COVID, RSV and infections caused by the common bacterium Mycoplasma pneumoniae. The World Health Organization is monitoring those cases, as well as an increase in pediatric respiratory disease cases in northern China.
Meanwhile multiple countries in Europe have also reported a rise in pediatric pneumonia cases, many of which are also caused by Mycoplasma bacteria.
None of these clusters, however, appear to be related to one another or caused by unfamiliar bugs. Initial reports on the increase in Warren County came from school nurses who said that a lot of students were calling in sick, according to Clint Koenig, a family physician and the medical director of Warren County Health District.
"We're pretty confident that this is way above what we've seen this time last year," he says. But Koenig adds that it's hard to say how many more cases there are because data on children's pneumonia cases are not routinely collected. Regardless, the causes of pneumonia are no different than those of past years: mostly RSV, adenovirus and Streptococcus or Mycoplasma infections.
What's causing the current uptick in pneumonia cases, and how severe are they?
The growing pockets of pneumonia trace back to the usual increase in respiratory illnesses that occurs every winter, Schaffner says. Just as some flu seasons are more intense than others, the spread and severity of other winter diseases can also vary from year to year. Some upticks might be occurring as the usual seasonality of these pathogens continues to settle back into prepandemic patterns after it was disrupted by lockdowns, masking and social distancing, Schaffner says. But the biggest cause is likely that pathogens have more opportunity to spread in the winter.
"These viruses are taking advantage of us now that we are close together in birthday parties, schools, travel, religious services—whatever brings people together indoors," Schaffner says. "And of course, we anticipate even more of that, given the holiday season. The New Year's parties, all the travel associated with that and vacations are all wonderful environments that predispose to the spread of all of these respiratory infections, some of which will eventuate in pneumonia."
What is the difference between pneumonia, "walking pneumonia" and "white lung syndrome"?
Pneumonia is an inflammation of the lungs that can be caused by a wide range of viruses, bacteria and fungi. Most respiratory infections involve the upper respiratory tract—the nose, throat and upper bronchial tubes, Schaffner says.
An infection develops into pneumonia when it reaches the lower respiratory tract and invades the lung tissue. This causes the lung's white blood cells to trigger an inflammatory response. "If you get a lot of pneumonia, it will materially interfere with your ability to exchange gases. You can get short of breath, and you can have difficulty breathing," Schaffner says.
Other symptoms include cough, fever, chest pain, fatigue and loss of appetite.
At least a dozen different pathogens can lead to pneumonia—no individual pathogen is responsible for even one in 10 cases. In fact, the pathogen behind any particular case of pneumonia is often never identified. Most pneumonia cases are triggered by a bacterium, but pneumonia is also a possible complication of respiratory viruses, such as COVID, influenza, RSV and even the common cold. These viruses can cause pneumonia by themselves or by making the body more vulnerable to secondary infections.
"Once somebody is infected with a virus, they're more prone to get a bacterial infection on top of that" because the viral infection reduces their immune defenses, Thyagarajan explains. "The people that are affected are very young—infants and very young children—and very old and people with chronic illness."
"Walking pneumonia" is a lay term often used to describe mild pneumonia cases, particularly those caused by Mycoplasma bacteria. It also has been called atypical pneumonia, Thyagarajan says, and can cause fevers, a dry cough and sometimes ear infections. According to Offit, "walking pneumonia" is usually not that severe. "Although we treat it with antibiotics, it usually is, for the most part, limited," he says.
"White lung disease," or "white lung syndrome," is nothing but "a scary lay description, not used by medical professionals, of what we see on a routine chest x-ray," Schaffner says. Healthy lungs full of air appear black in an x-ray because air looks dark in a normal reading. When inflammation and white blood cells fill the area, the lungs become opaque and more white on the reading, Offit explains. "It's neither a scientific nor a medically acceptable term," he adds.
How does pneumonia differ between children and adults?
Pneumonia symptoms are similar in children and adults, though young children may also experience nausea and vomiting, and older adults may have confusion. Beyond that, "different bugs are more apt to produce pneumonia in children than adults," Schaffner says. "The older you get, if you have underlying illnesses, these respiratory viruses are more likely to result in pneumonia."
Older adults tend to fare worse with pneumonia. Though pneumonia is the number-one cause of hospitalization in children in the U.S., older adults hospitalized with the disease have a greater risk of death than those hospitalized for any of the other top-10 reasons. That's why it's particularly important for older adults to get their RSV, flu and COVID vaccines, Thyagarajan says. "The populations who are at higher risk for complications, hospitalizations and dying from respiratory viruses and bacteria are the same populations who will benefit most from these vaccinations," she says.
How is pneumonia treated?
Most viral pneumonia can only be treated with supportive care, such as providing oxygen; people with severe cases may require ventilators, heart-lung machines and other forms of mechanical ventilation, Offit says. Bacterial pneumonia is treated with antibiotics.
If you are otherwise healthy, there's no need to contact a health care provider in the first several days of developing a respiratory infection, Thyagarajan says. But if you develop warning symptoms, such as confusion, shortness of breath or a fever that lasts more than three or four days, "it's prudent to call your health care provider or seek emergency care," she says.
Antivirals for flu and COVID, such as Paxlovid, can reduce the likelihood of developing pneumonia when taken early in the course of illness. Those in high-risk groups who develop respiratory symptoms, including those who have a chronic illness or are immunocompromised, should call their health care provider even when the symptoms seem mild, Schaffner says. That way they can get tested for flu and COVID to see if they potentially qualify for medications that reduce the severity of those diseases. Diagnosing an infection and treating it early are key to stopping it from turning into pneumonia.
How can you prevent pneumonia?
Though vaccination can't prevent all cases of pneumonia, five vaccines recommended in the U.S. Can substantially reduce risk of it. Two of these are already routinely recommended for children: the pneumococcal conjugate vaccines (PCV15 and PCV20) and the Haemophilus influenzae (Hib) vaccine. Pneumococcal vaccines are also recommended in adults aged 65 and older, as well as adults with certain medical conditions.
The COVID and seasonal flu vaccines, recommended for everyone aged six months and older, greatly reduce the risk of those diseases developing into pneumonia. Protection against RSV by the monoclonal antibody nirsevimab (Beyfortus) and the recently approved RSV vaccines can also reduce pneumonia risk in those eligible, including adults aged 60 and older, pregnant people, babies and some toddlers.
(Pneumonia develops in one out of five cases of pertussis, or whooping cough, so pertussis vaccination can also prevent pneumonia.)
The same behaviors recommended to prevent the spread of COVID, such as masking, staying home when sick and social distancing, will also reduce risk of other respiratory illnesses that can cause pneumonia.
"If you're in a high-risk group—you're older, you're frail, you have underlying illnesses, you're immune-compromised—you can get out your mask, and you can be more cautious when you travel or go to the supermarket or any indoor gathering of people," Schaffner says.
Thyagarajan says she wears her mask at large gatherings in the winter season to protect herself and to protect others as well. That's especially important if you are a caregiver for an older person or young baby, she adds.
Avoiding people who are coughing and showing other symptoms is obviously ideal, too, but it can be difficult to do, Schaffner adds. Stay home if you are sick—it's ultimately one of the best ways to avoid spreading illness.
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