Anemia spherocytic hereditary

ʻO ka heremia spherosittic anhered kahi maʻi maʻamau o ka papa o ka ʻili (membrane) o nā hunaola ʻulaʻula. Alakaʻi ia i nā ʻulaʻula koko e hoʻohālikelike ʻia e like me nā spheres, a me ka haki mua ʻana o nā hunaola ʻulaʻula (hemolytic anemia).

Hoʻokumu ʻia kēia maʻi e kahi ʻāpana hemahema. Loaʻa nā hemahema i kahi membrane ʻulaʻula ʻulaʻula ʻole. Loaʻa i nā hunaola kahi ʻāpana liʻiliʻi o kā lākou nui ma mua o nā hunaola ʻulaʻula maʻamau, a hiki ke haki maʻalahi.

Hiki ke loli ke anemia mai ke akahai a i ʻole koʻikoʻi. I nā hihia koʻikoʻi hiki ke loaʻa ka maʻi maʻi i ka wā kamaliʻi. I nā hihia maʻalahi hiki ke nānā ʻole ʻia a hiki i ka wā makua.

ʻO kēia maʻi ka mea maʻamau i ka poʻe o ka ʻohana ʻEulopa ʻākau, akā ua loaʻa ia i nā lāhui āpau.

Hiki i nā pēpē ke melemele i ka ʻili a me nā maka (jaundice) a me ka pena pale (pale).

Hiki i nā ʻōuli ʻē aʻe ke:

• Ka luhi
• Huhū
• Pokole o ka hanu
• Nawaliwali

I ka hapanui o nā hihia, hoʻonui ʻia ka spleen.

Hiki i nā hoʻokolohua Laboratory ke kōkua i ke kuhi ʻana i kēia ʻano. E komo pū paha nā hoʻāʻo:

• Hoʻopili ke koko e hōʻike i nā hunaola ʻano ʻole
• Pae Bilirubin
• Helu piha ke koko e nānā no ka anemia
• Hōʻike Coombs
• Pae LDH
• ʻO ka palupalu Osmotic a i ʻole ka hoʻowalewale loiloi e loiloi no ka hemahema o ke koko ʻula
• Helu helu Retikulosit

Lapaʻau e wehe i ka spleen (splenectomy) hoʻōla i ka anemia akā ʻaʻole ia e hoʻoponopono i ke ʻano o nā hunaola ʻole.

ʻO nā ʻohana me ka mōʻaukala o spherositosis e nānā ʻia kā lākou keiki no kēia maʻi.

E kali nā keiki a hiki i ka makahiki 5 e loaʻa i ka splenectomy ma muli o ka hopena o ka maʻi. I nā hihia akahai i ʻike ʻia i nā mākua, ʻaʻole pono paha e hemo i ka ʻōpala.

Pono e hāʻawi ʻia nā keiki a me nā mākua i ka lāʻau āpau pneumococcal ma mua o ke ʻoki ʻoki ʻana. Pono lākou e loaʻa nā mea kōkua folic acid. Pono paha nā lāʻau āpau e pili ana i ka mōʻaukala o ke kanaka.

Hiki i nā kumuwaiwai aʻe ke hāʻawi i ka ʻikepili hou aʻe e pili ana i ka anemia spherocytic hereditary:

• Ka Pūnaewele ʻIke Genetic and Rare Diseases - rarediseases.info.nih.gov/diseases/6639/hereditary-spherositosis
• National Organization for Rare Disorder - rarediseases.org/rare-diseases/anemia-hereditary-spherosittic-hemolytic

Maikaʻi ka hopena me ka lāʻau. Ma hope o ka hemo ʻana o ka spleen, hoʻi ka lōʻihi o ke ola o ke koko ʻulaʻula i ka maʻamau.

Komo pū nā pilikia:

• Nā Pohaku
• ʻOi aku ka haʻahaʻa o ka hana ʻana o ke koko ʻulaʻula (pilikia aplastic) i hoʻokumu ʻia e kahi maʻi viral, ka mea e hiki ai ke hōʻemi i ka anemia

Kāhea i kāu kahu mālama ola inā:

• Maikaʻi loa kāu mau ʻōuli.
• ʻAʻole hoʻomaikaʻi kāu mau ʻōuli me ka lāʻau hou.
• Hoʻokumu ʻoe i nā ʻōuli hou.

He maʻi hoʻoilina kēia a ʻaʻole hiki ke pale ʻia. Ke hoʻomaopopo nei i kāu pilikia, e like me ka moʻolelo ʻohana o ka maʻi, hiki ke kōkua iā ʻoe e ʻike ʻia a mālama mua ʻia.

Congenital spherocytic hemolytic anemia; Spherositosis; Hemolytic anemia - spherocytic

• Nā koko ʻulaʻula - maʻamau
• Nā koko ʻulaʻula - spherocytosis
• Nā pūnaewele koko

ʻO Gallagher PG. Nā maʻi membrane ʻulaʻula koko. I: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Nā Kumumanaʻo a me ka Hoʻomeheu. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 45.

ʻO Merguerian MD, Gallagher PG. Spherocytosis hoʻoilina. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 485.