關於 thalassemia type ，我們在網路上蒐集到這些相關的討論、資訊與評價

【先天性貧血】輕型地中海貧血症很普遍

⭐香港每12人中便有1人是地貧基因攜帶者
⭐產前血液檢驗有助辨認地貧基因
#星期五湯水

認識地中海貧血
地中海貧血是一種遺傳性血液疾病，由於基因缺損令患者無法產生足夠的正常血色素，造成不同程度的貧血。重型地中海貧血患者需要長期輸血；中型地中海貧血患者脾臟腫大，有可能要切除或服食除鐵藥物。而部份輕型地中海貧血患者終身沒有症狀，部份患者則可能因為貧血而導致容易疲勞。
從中醫角度看，雖然地貧基因不能逆轉，但可針對症狀對症下藥。貧血屬於血虛範疇，一般以補養氣血及調理脾腎為主，如果有容易頭暈、心悸、面色偏白、嘴唇色淡、皮膚乾燥等血虛症狀，適量飲用補氣養血的湯水有助改善情況，如情況嚴重或持續，宜諮詢註冊中醫師治理。

食材小貼士：
紅豆性平，能補血和胃，紓緩集中力不夠、氣血虛弱等症狀。適合各類體質人士服用。

南瓜紅豆腰果素湯
功效：養血強身，紓緩心悸、頭暈、睡眠差等症狀。
材料：南瓜半個（約800克）、紅蘿蔔2根、紅豆30克、腰果30克、花生30克、紅棗4枚
做法：
1. 把所有材料洗淨，木瓜及南瓜去皮去籽切塊，腰果先以白鍋炒香備用。
2. 鍋中加入約2500毫升水，放入全部材料，以武火煮至水滾，調文火煮約2小時，加鹽調味即成。
備註：體質偏熱人士不宜經常飲用。

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What is Thalassemia?
Thalassemia is an inherited blood disorder, and its patients are unable to produce sufficient hemoglobin for the body, causing them to suffer from various degrees of anemia.

Patients with thalassemia major have to go for blood transfusion regularly; those with thalassemia intermedia might have a swollen spleen. If need be, they might have to remove the spleen and take Deferasirox (an iron chelator used to treat chronic iron overload); thalassemia minor sufferers might not exhibit any symptoms, but they would feel exhausted easily due to anemia.

From the perspective of Chinese Medicine, though this genetic disorder is irreversible, there are ways to relieve the symptoms. Anemia is a type of blood deficiency, so the plan should focus on nourishing the qi and the blood and regulating the spleen and kidneys.

Individuals with blood deficiency-related symptoms such as dizziness and palpitation, pale face and lips, and dry skin should drink soups that can replenish the qi and nourish the blood. If the condition persists, consult registered and licensed Chinese physicians.

Tips on ingredient:
Red beans are mild in nature and can replenish blood and stomach. Relieves symptoms of lack of concentration, asthenic qi and blood. Suitable for all body types.

Pumpkin and red bean soup with cashew
Effects: Nourishes the blood, strengthens the body. Relieves heart palpitations, dizziness and improves sleep quality.
Ingredients: 1/2 pumpkin, 2 carrot, 30g red beans, 30g cashews, 30g peanuts, 4 red dates
Preparation:
1. Rinse all ingredients thoroughly. Remove skin and seeds from the pumpkin and cut into pieces. Cut the peeled carrot into pieces.
2. Combine all ingredients with 2500ml of water in a pot and cook on high heat until boiling. Turn to low heat and simmer for 2 hours. Add salt to taste.
Note: Those with excess heat should consume in moderation.

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#男 #女 #我畏冷 #血虛 #頭暈

Anyone with a compatible blood type please donate to save the poor child.
The child did not choose to have this genetic problem as it's hereditary (Thalassemia major), but he still deserves a life outside of the hospital.

一位52歲的男士因容易疲勞求醫，血液檢查發現他有貧血，血色素9.2g/dL、白血球4.5x10^9/L、血小板231x10^9/L，MCV 62fL。用brilliant cresyl blue染料為血液抹片上色後，有如下圖的發現。診斷是甚麼？（答案在下面）
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病人得的是HbH疾病（HbH disease），是一種中型甲型地中海貧血症（alpha thalassemia intermedia）。甲型地中海貧血症是一種由alpha球蛋白基因刪除引起（alpha globin gene deletion）的先天性基因疾病。Alpha球蛋白基因有4條，如果病人基因只有1或2條被刪除，病人完全沒有症狀，是基因攜帶者。如果基因有3條被刪除，病人會有HbH疾病。如果4條基因都被刪除，病人會有非常嚴重的重型甲型地中海貧血症，大部分都會在未生出前或出生數日內死亡。

一般成年人的紅血蛋白叫做HbA，由兩條alpha球蛋白鏈（alpha globin chain）與兩條beta球蛋白鏈（beta globin chain）組成。HbH疾病的病人減少製造alpha球蛋白鏈，多出來的beta球蛋白鏈就會自行結合成由四條beta球蛋白鏈組成的HbH。HbH是一種不穩定的紅血蛋白，所以患者的紅血球很脆弱，會有溶血的情況，他們的骨髓不能有效地製造紅血球，所以會有貧血。

HbH聚集成包涵體（inclusion bodies），可以被brilliant cresyl blue或new methylene blue染料上色。大家圖中見到好像荔枝，又好像高爾夫球的紅色球，就是有HbH包涵體的紅血球。甲型地中海貧血症基因攜帶者血液中有少量帶有HbH包涵體的紅血球，而HbH疾病的患者就會有大量這種紅血球。

HbH疾病的患者一般有低色素小紅血球型貧血（hypochromic microcytic anaemia），即紅血球顏色較淡，體積較少。病人血紅素一般約7-10g/dL，他們不需要長期接受輸血，但當有感染或其他原因令骨髓負荷增加，他們的貧血情況就可以惡化而需要短暫接受輸血。