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Thalassemia 地中海貧血

Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.

Causes

Hemoglobin is made of two proteins: Alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins.

There are two main types of thalassemia:

  • Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).
  • Beta thalassemia occurs when similar gene defects affect production of the beta globin protein.

Alpha thalassemias occur most often in persons from Southeast Asia, the Middle East, China, and in those of African descent.

Beta thalassemias occur most often in persons of Mediterranean origin. To a lesser extent, Chinese, other Asians, and African Americans can be affected.

There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia include the following two forms:

  • Thalassemia major
  • Thalassemia minor

You must inherit the gene defect from both parents to develop thalassemia major.

Thalassemia minor occurs if you receive the faulty gene from only one parent. Persons with this form of the disorder are carriers of the disease. Most of the time, they do not have symptoms.

Beta thalassemia major is also called Cooley’s anemia.

Risk factors for thalassemia include:

  • Asian, Chinese, Mediterranean, or African American ethnicity
  • Family history of the disorder

Symptoms

The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy).

Children born with thalessemia major (Cooley’s anemia) are normal at birth, but develop severe anemia during the first year of life.

Other symptoms can include:

  • Bone deformities in the face
  • Fatigue
  • Growth failure
  • Shortness of breath
  • Yellow skin (jaundice)

Persons with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms.

Exams and Tests

Your doctor will do a physical exam to look for an enlarged spleen.

A blood sample will be sent to a laboratory to be tested.

  • Red blood cells will appear small and abnormally shaped when looked at under a microscope.
  • A complete blood count (CBC) reveals anemia.
  • A test called hemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin.
  • A test called mutational analysis can help detect alpha thalassemia.

Treatment

Treatment for thalassemia major often involves regular blood transfusions and folate supplements.

If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful.

Persons who receive a lot of blood transfusions need a treatment called chelation therapy. This is done to remove excess iron from the body.

A bone marrow transplant may help treat the disease in some patients, especially children.

Outlook (Prognosis)

Severe thalassemia can cause early death (between ages 20 and 30) due to heart failure. Getting regular blood transfusions and therapy to remove iron from the body helps improve the outcome.

Less severe forms of thalassemia often do not shorten lifespan.

You may want to seek genetic counseling if you have a family history of the condition and are thinking of having children.

Possible Complications

Untreated, thalassemia major leads to heart failure and liver problems. It also makes a person more likely to develop infections.

Blood transfusions can help control some symptoms, but carry a risk of side effects from too much iron.

Source: U.S. National Library of Medicine

Read more

Diseases and Conditions – Thalassemia at Mayo Clinic . . . . .

Facts About Thalassemia at Centers for Disease Control and Prevention . . . . .

Frequently Asked Questions at Thalassemia Foundation of Canada . . . . .

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Lack of Sleep Tampers with Your Emotions

Cranky or grumpy after a long night? Your brain’s ability to regulate emotions is probably compromised by fatigue. This is bad news for 30 percent of American adults who get less than six hours of sleep per night, according to the Centers for Disease Control and Prevention.

A new Tel Aviv University study has identified the neurological mechanism responsible for disturbed emotion regulation and increased anxiety due to only one night’s lack of sleep. The research reveals the changes sleep deprivation can impose on our ability to regulate emotions and allocate brain resources for cognitive processing.

The research was led by Prof. Talma Hendler of TAU’s Sagol School of Neuroscience, Sackler Faculty of Medicine, and School of Psychological Sciences, and conducted by TAU graduate student Eti Ben-Simon at the Center for Brain Functions at Tel Aviv Sourasky Medical Center. It was published recently in the Journal of Neuroscience.

Nothing is neutral any more?

“Prior to our study, it was not clear what was responsible for the emotional impairments triggered by sleep loss,” said Prof. Hendler. “We assumed that sleep loss would intensify the processing of emotional images and thus impede brain capacity for executive functions. We were actually surprised to find that it significantly impacts the processing of both neutral and emotionally-charged images.

“It turns out we lose our neutrality. The ability of the brain to tell what’s important is compromised. It’s as if suddenly everything is important,” she said.

For the purpose of the study, Ben-Simon kept 18 adults awake all night to take two rounds of tests while undergoing brain mapping (fMRI and/or EEG), first following a good night’s sleep and the second following a night of lack of sleep in the lab. One of the tests required participants to describe in which direction small yellow dots moved over distracting images. These images were “positively emotional” (a cat), “negatively emotional” (a mutilated body), or “neutral” (a spoon).

When participants had a good night’s rest, they identified the direction of the dots hovering over the neutral images faster and more accurately, and their EEG pointed to differing neurological responses to neutral and emotional distractors. When sleep-deprived, however, participants performed badly in the cases of both the neutral and the emotional images, and their electrical brain responses, as measured by EEG, did not reflect a highly different response to the emotional images. This pointed to decreased regulatory processing.

“It could be that sleep deprivation universally impairs judgment, but it is more likely that a lack of sleep causes neutral images to provoke an emotional response,” said Ben-Simon.

Losing a sense of proportion

The researchers conducted a second experiment testing concentration levels. Participants were shown neutral and emotional images while performing a task demanding their attention while ignoring distracting background pictures with emotional or neutral content — the depression of a key or button at certain moments — while inside an fMRI scanner. This time researchers measured activity levels in different parts of the brain as they completed the cognitive task.

The team found that participants after only one night of lack of sleep were distracted by every single image (neutral and emotional), while well-rested participants were only distracted by emotional images. The effect was indicated by activity change in the amygdala, a major limbic node responsible for emotional processing in the brain.

“We revealed a change in the emotional specificity of the amygdala, a region of the brain associated with detection and valuation of salient cues in our environment, in the course of a cognitive task.” said Prof. Hendler.

“These results reveal that, without sleep, the mere recognition of what is an emotional and what is a neutral event is disrupted. We may experience similar emotional provocations from all incoming events, even neutral ones, and lose our ability to sort out more or less important information. This can lead to biased cognitive processing and poor judgment as well as anxiety,” said Prof. Hendler.

The new findings emphasize the vital role sleep plays in maintaining good emotional balance in our life for promoting mental health. The researchers are currently examining how novel methods for sleep intervention (mostly focusing on REM sleep) may help reduce the emotional dysregulation seen in anxiety, depression, and traumatic stress disorders.

Source: American Friends of Tel Aviv University

Cherry-cheese Coffee Ring

Ingredients

2 tsp active dry yeast
1-1/4 cups warm water
1/2 tsp margarine, melted
5 tbsp sugar
1/2 tsp salt
3-1/2 cups unbleached flour
32 oz canned pitted sour cherries
1/4 cup nonfat cream cheese
1/4 cup nonfat plain yogurt
1/2 tsp vanilla extract (essence)
1 tbsp nonfat milk

Method

  1. In a large bowl, dissolve the yeast in the water and let stand for 5 minutes. Add the margarine, 3 tablespoons of the sugar, the salt and flour and work into a dough. Using a mixer with a dough hook or by hand on a lightly floured work surface, knead the dough until smooth and elastic, about 4 minutes. Form into a ball.
  2. Coat a large bowl with nonstick cooking spray, add the dough and turn to coat all sides. Cover with a kitchen towel and let rise in a warm place, free from draft, until doubled, about 1 hour.
  3. In a medium saucepan over medium heat, place the cherries in water to cover and bring to a boil. Reduce the heat to low and simmer for 10 minutes. Drain well, blot to remove all excess liquid and cool.
  4. In a food processor with the metal blade or in a blender, combine the cream cheese, yogurt and vanilla and process until smooth. Punch down the dough and roll out to an 8-by-14-inch rectangle.
  5. Spread the cream cheese mixture over the dough to within 1 inch of the edges. Top with the cherries. Fold the dough over lengthwise and pinch the edges to seal.
  6. Coat a baking sheet with nonstick cooking spray. On the baking sheet, form the dough into a ring. Using kitchen scissors, make deep cuts all around the top of the ring. Cover with a kitchen towel and let rise until doubled in bulk, about 45 minutes.
  7. Preheat an oven to 375°F (190°C).
  8. Brush the top of the ring with the milk and sprinkle with the remaining sugar. Bake until golden brown, about 30 minutes. Cool for 10 minutes.
  9. To serve, cut into 8 pieces. One serving is 1 piece.

Makes 8 servings.

Source: Cooking for Healthy Living